Variant report

Variant	esv3395884
Chromosome Location	chr1:228269354-228272202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:228270119-228270302	K562	blood:	n/a	n/a
2	ARID3A	chr1:228270093-228270586	HepG2	liver:	n/a	n/a
3	ATF1	chr1:228270119-228270560	K562	blood:	n/a	chr1:228270398-228270412 chr1:228270389-228270403
4	ATF3	chr1:228270087-228270512	K562	blood:	n/a	chr1:228270375-228270384 chr1:228270281-228270290 chr1:228270381-228270401
5	BACH1	chr1:228270010-228270191	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:228271612-228272587	K562	blood:	n/a	n/a
7	BACH1	chr1:228270877-228270913	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr1:228272033-228272345	GM12878	blood:	n/a	n/a
9	BCL3	chr1:228269835-228270279	A549	lung:	n/a	chr1:228269866-228269879
10	BCLAF1	chr1:228270001-228270577	GM12878	blood:	n/a	n/a
11	BCLAF1	chr1:228269776-228270596	K562	blood:	n/a	chr1:228269866-228269879
12	BHLHE40	chr1:228269943-228270432	K562	blood:	n/a	chr1:228270279-228270295 chr1:228270211-228270227
13	BHLHE40	chr1:228269907-228270466	GM12878	blood:	n/a	chr1:228270279-228270295 chr1:228270211-228270227
14	BHLHE40	chr1:228271566-228272064	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:228271375-228272384	K562	blood:	n/a	n/a
16	BRCA1	chr1:228270247-228270447	H1-hESC	embryonic stem cell:	n/a	n/a
17	BRCA1	chr1:228270362-228270423	HepG2	liver:	n/a	n/a
18	BRCA1	chr1:228271100-228271201	GM12878	blood:	n/a	n/a
19	BRCA1	chr1:228270095-228270533	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr1:228271310-228272443	K562	blood:	n/a	chr1:228271889-228271900
21	CBX3	chr1:228269342-228270493	K562	blood:	n/a	n/a
22	CCNT2	chr1:228269826-228271569	K562	blood:	n/a	chr1:228270005-228270014 chr1:228270275-228270284 chr1:228270281-228270290
23	CEBPB	chr1:228272018-228272495	MCF-7	breast:	n/a	chr1:228272300-228272313 chr1:228272302-228272313 chr1:228272477-228272488 chr1:228272300-228272311
24	CEBPB	chr1:228272084-228272544	HepG2	liver:	n/a	chr1:228272300-228272313 chr1:228272302-228272313 chr1:228272477-228272488 chr1:228272300-228272311
25	CEBPB	chr1:228270198-228270414	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr1:228271668-228272530	K562	blood:	n/a	chr1:228272300-228272313 chr1:228272302-228272313 chr1:228272477-228272488 chr1:228272300-228272311
27	CEBPB	chr1:228271669-228272573	K562	blood:	n/a	chr1:228272300-228272313 chr1:228272302-228272313 chr1:228272477-228272488 chr1:228272300-228272311
28	CEBPB	chr1:228272178-228272365	HepG2	liver:	n/a	chr1:228272300-228272313 chr1:228272302-228272313 chr1:228272300-228272311
29	CEBPB	chr1:228272114-228272489	A549	lung:	n/a	chr1:228272300-228272313 chr1:228272302-228272313 chr1:228272477-228272488 chr1:228272300-228272311
30	CEBPB	chr1:228271750-228272487	HepG2	liver:	n/a	chr1:228272300-228272313 chr1:228272302-228272313 chr1:228272300-228272311
31	CEBPB	chr1:228272119-228272497	HepG2	liver:	n/a	chr1:228272300-228272313 chr1:228272302-228272313 chr1:228272477-228272488 chr1:228272300-228272311
32	CEBPB	chr1:228272110-228272465	K562	blood:	n/a	chr1:228272300-228272313 chr1:228272302-228272313 chr1:228272300-228272311
33	CEBPB	chr1:228271358-228272496	Hela-S3	cervix:	n/a	chr1:228272300-228272313 chr1:228272302-228272313 chr1:228272477-228272488 chr1:228272300-228272311
34	CEBPB	chr1:228271667-228272505	IMR90	lung:	n/a	chr1:228272300-228272313 chr1:228272302-228272313 chr1:228272477-228272488 chr1:228272300-228272311
35	CEBPB	chr1:228272040-228272574	A549	lung:	n/a	chr1:228272300-228272313 chr1:228272302-228272313 chr1:228272477-228272488 chr1:228272300-228272311
36	CEBPD	chr1:228269981-228270592	K562	blood:	n/a	n/a
37	CEBPD	chr1:228270255-228270637	HepG2	liver:	n/a	n/a
38	CEBPD	chr1:228271142-228271582	HepG2	liver:	n/a	n/a
39	CHD1	chr1:228270492-228270624	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr1:228269892-228272348	GM12878	blood:	n/a	n/a
41	CHD1	chr1:228271191-228271770	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr1:228269799-228274173	IMR90	lung:	n/a	n/a
43	CHD2	chr1:228271298-228271539	K562	blood:	n/a	n/a
44	CHD2	chr1:228269417-228269683	K562	blood:	n/a	n/a
45	CHD2	chr1:228269885-228270773	K562	blood:	n/a	n/a
46	CHD2	chr1:228269595-228269686	HepG2	liver:	n/a	n/a
47	CHD2	chr1:228269967-228271085	GM12878	blood:	n/a	n/a
48	CHD2	chr1:228271636-228271838	GM12878	blood:	n/a	n/a
49	CHD2	chr1:228270257-228270521	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr1:228270052-228270484	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228270207-228270257	AG09319	gingival:	n/a
2	chr1:228270207-228270257	AG09319	gingival:	n/a
3	chr1:228270190-228270240	T-47D	breast:	n/a
4	chr1:228270029-228270079	HL-60	blood:	n/a
5	chr1:228270225-228270275	HAEpiC	amniotic membrane:	n/a
6	chr1:228270207-228270257	T-47D	breast:	n/a
7	chr1:228269881-228269931	NB4	blood:	n/a
8	chr1:228270029-228270079	HAEpiC	amniotic membrane:	n/a
9	chr1:228271368-228271418	LNCaP	prostate:	n/a
10	chr1:228270225-228270275	SK-N-MC	brain:	n/a
11	chr1:228270029-228270079	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:228270764-228270814	BE2_C	brain:	n/a
13	chr1:228270190-228270240	GM06990	blood:	n/a
14	chr1:228270676-228270726	IMR90	lung:	fetal
15	chr1:228271368-228271418	HMEC	breast:	n/a
16	chr1:228271368-228271418	HL-60	blood:	n/a
17	chr1:228271294-228271344	Hepatocyte	liver:	n/a
18	chr1:228270676-228270726	Jurkat	blood:	n/a
19	chr1:228270481-228270531	AG09309	skin:	n/a
20	chr1:228270207-228270257	BE2_C	brain:	n/a
21	chr1:228271368-228271418	SAEC	small airway:	n/a
22	chr1:228269915-228269965	MCF10A-Er-Src	breast:	n/a
23	chr1:228270225-228270275	HNPCEpiC	eye:	n/a
24	chr1:228270764-228270814	AG10803	skin:	n/a
25	chr1:228269881-228269931	AG09319	gingival:	n/a
26	chr1:228270414-228270464	GM12892	blood:	n/a
27	chr1:228270676-228270726	HRE	kidney:	n/a
28	chr1:228270676-228270726	A549	lung:	n/a
29	chr1:228269881-228269931	BE2_C	brain:	n/a
30	chr1:228271294-228271344	HEEpiC	esophagus:	n/a
31	chr1:228271294-228271344	ProgFib	skin:	n/a
32	chr1:228270481-228270531	GM19239	blood:	n/a
33	chr1:228270207-228270257	H1-hESC	embryonic stem cell:	embryo
34	chr1:228269915-228269965	AG04449	skin:	fetal
35	chr1:228269881-228269931	GM12878	blood:	n/a
36	chr1:228270414-228270464	IMR90	lung:	fetal
37	chr1:228270190-228270240	HL-60	blood:	n/a
38	chr1:228270676-228270726	SAEC	small airway:	n/a
39	chr1:228270396-228270446	CMK	blood:	n/a
40	chr1:228270190-228270240	HPAEpiC	pulmonary alveolar:	n/a
41	chr1:228270190-228270240	GM12878	blood:	n/a
42	chr1:228269915-228269965	PANC-1	pancreas:	n/a
43	chr1:228270024-228270074	Jurkat	blood:	n/a
44	chr1:228270483-228270533	HCT-116	colon:	n/a
45	chr1:228270414-228270464	K562	blood:	n/a
46	chr1:228271294-228271344	RPTEC	kidney:	n/a
47	chr1:228270414-228270464	AG09319	gingival:	n/a
48	chr1:228269915-228269965	HPAEpiC	pulmonary alveolar:	n/a
49	chr1:228270225-228270275	SAEC	small airway:	n/a
50	chr1:228270190-228270240	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr1:228269292..228271024-chr1:228643891..228647144,3	K562	blood:
2	chr1:228269306..228272326-chr1:228326148..228329488,5	MCF-7	breast:
3	chr1:228270286..228270860-chr16:88851325..88852066,2	HCT-116	colon:
4	chr1:228271061..228272928-chr1:228645504..228647273,2	K562	blood:
5	chr1:228187607..228189988-chr1:228271798..228274148,2	K562	blood:
6	chr1:228216833..228219202-chr1:228268164..228269847,2	K562	blood:
7	chr1:228270227..228270808-chr1:228296563..228297459,2	NB4	blood:
8	chr1:227973508..227976414-chr1:228271906..228274660,2	K562	blood:
9	chr1:228271974..228275319-chr1:228643789..228645457,3	K562	blood:
10	chr1:227921488..227923041-chr1:228269667..228272192,2	MCF-7	breast:
11	chr1:228269154..228271874-chr1:228360119..228363775,3	K562	blood:
12	chr1:228269794..228271921-chr1:228327972..228330804,3	MCF-7	breast:
13	chr1:228272139..228273835-chr1:228675045..228676865,2	MCF-7	breast:
14	chr1:228192379..228197446-chr1:228268248..228273367,9	MCF-7	breast:
15	chr1:228268335..228271224-chr1:228352172..228356089,4	K562	blood:
16	chr1:228271007..228273553-chr1:228330538..228333178,2	MCF-7	breast:
17	chr1:228269773..228272364-chr1:228352112..228354622,6	MCF-7	breast:
18	chr1:228244560..228247525-chr1:228272017..228274884,2	MCF-7	breast:
19	chr1:45204980..45205724-chr1:228270199..228270919,2	Hela-S3	cervix:
20	chr1:228269915..228273320-chr1:228326449..228329096,4	K562	blood:
21	chr1:227923000..227925656-chr1:228268639..228271303,2	MCF-7	breast:
22	chr1:228270437..228272083-chr1:228644163..228645827,2	MCF-7	breast:
23	chr1:228267983..228269550-chr1:228473871..228475607,2	K562	blood:
24	chr1:228270694..228272754-chr8:126441550..126443960,2	MCF-7	breast:
25	chr1:228270567..228271075-chr19:12903383..12904345,2	Hela-S3	cervix:
26	chr1:228268869..228271597-chr1:228699816..228701498,2	K562	blood:
27	chr1:228271073..228272063-chr1:228289733..228290720,3	MCF-7	breast:
28	chr1:228268894..228271778-chr1:228351302..228354925,4	MCF-7	breast:
29	chr1:228270000..228270810-chr15:75939773..75940581,2	Hela-S3	cervix:
30	chr1:228267816..228271023-chr1:228334433..228337364,3	K562	blood:
31	chr1:228271816..228272376-chr1:228290019..228290721,2	K562	blood:
32	chr1:228270277..228270944-chr16:89626682..89627322,2	Hela-S3	cervix:
33	chr1:228270338..228271968-chr1:228400103..228402238,2	MCF-7	breast:
34	chr1:227916348..227918529-chr1:228270679..228272482,2	MCF-7	breast:
35	chr1:228270141..228272243-chr1:228325927..228327960,2	MCF-7	breast:
36	chr1:228270474..228272694-chr1:228336357..228338344,2	K562	blood:
37	chr1:228180647..228182707-chr1:228268126..228270057,2	K562	blood:
38	chr1:228267482..228269833-chr1:228325846..228328403,3	K562	blood:
39	chr1:228267667..228275106-chr1:228326600..228331394,10	K562	blood:
40	chr1:228266682..228273620-chr1:228293839..228298603,9	MCF-7	breast:

Variant related genes	Relation type
ARF1	TF binding region
ARF1	CpG island
ENSG00000142945	chromatin interactions
ENSG00000162910	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000081692	chromatin interactions
ENSG00000168159	chromatin interactions
ENSG00000103335	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000198835	chromatin interactions
ENSG00000143740	chromatin interactions
ENSG00000173548	chromatin interactions
ENSG00000173334	chromatin interactions
ENSG00000143793	chromatin interactions
ENSG00000154342	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000215811	chromatin interactions
ENSG00000143774	chromatin interactions
ENSG00000167526	chromatin interactions
ENSG00000203684	chromatin interactions
ENSG00000095066	chromatin interactions
ENSG00000162913	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186306550	chr1:228269381-228269382	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs190713298	chr1:228269395-228269396	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs573251300	chr1:228269454-228269455	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs182964692	chr1:228269539-228269540	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs187257280	chr1:228269555-228269556	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs567551884	chr1:228269559-228269560	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs146400368	chr1:228269577-228269578	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs374984427	chr1:228269596-228269597	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs563306023	chr1:228269619-228269620	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs532346144	chr1:228269692-228269693	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs372518475	chr1:228269755-228269756	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs545733239	chr1:228269761-228269762	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs559682667	chr1:228269777-228269778	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs543056287	chr1:228269784-228269785	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs528436726	chr1:228269797-228269798	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs548587025	chr1:228269913-228269914	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs34667630	chr1:228269917-228269918	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs562091520	chr1:228269938-228269939	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs191518376	chr1:228269985-228269986	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs370463658	chr1:228270003-228270004	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs375241490	chr1:228270011-228270012	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs570915025	chr1:228270014-228270015	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs540023978	chr1:228270017-228270018	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs183378628	chr1:228270026-228270027	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs115647813	chr1:228270118-228270119	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs187966915	chr1:228270138-228270139	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs192793671	chr1:228270163-228270164	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs568466904	chr1:228270203-228270204	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs539359899	chr1:228270226-228270227	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs536709138	chr1:228270228-228270229	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs822733	chr1:228270268-228270269	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576912401	chr1:228270270-228270271	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs139734880	chr1:228270297-228270298	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs1832733	chr1:228270311-228270312	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs183631631	chr1:228270349-228270350	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs542166732	chr1:228270366-228270367	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs562027309	chr1:228270390-228270391	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs187898639	chr1:228270410-228270411	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs111867710	chr1:228270435-228270436	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs111937095	chr1:228270440-228270441	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs550748750	chr1:228270447-228270448	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs564599279	chr1:228270448-228270449	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs533302236	chr1:228270449-228270450	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs558020803	chr1:228270506-228270507	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs369759823	chr1:228270576-228270577	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs368524793	chr1:228270600-228270601	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs371749303	chr1:228270601-228270602	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs573706903	chr1:228270621-228270622	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs535717120	chr1:228270730-228270731	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs376506986	chr1:228270733-228270734	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228268600-228269600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:228268800-228269400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:228268800-228269400	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:228268800-228269600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr1:228268800-228269600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr1:228268800-228269600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:228268800-228269600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:228268800-228269600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:228268800-228269600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:228268800-228269600	Flanking Active TSS	Dnd41	blood
11	chr1:228268800-228269600	Flanking Active TSS	HMEC	breast
12	chr1:228268800-228269600	Flanking Active TSS	K562	blood
13	chr1:228268800-228269800	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr1:228268800-228270000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:228269000-228269400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:228269000-228269400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:228269000-228269400	Enhancers	Lung	lung
18	chr1:228269000-228269400	Enhancers	Small Intestine	intestine
19	chr1:228269000-228269400	Enhancers	Spleen	Spleen
20	chr1:228269000-228269400	Flanking Active TSS	A549	lung
21	chr1:228269000-228269400	Flanking Active TSS	GM12878-XiMat	blood
22	chr1:228269000-228269400	Flanking Active TSS	HepG2	liver
23	chr1:228269000-228269400	Flanking Active TSS	HSMM	muscle
24	chr1:228269000-228269400	Flanking Active TSS	NH-A	brain
25	chr1:228269000-228269600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:228269000-228269600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:228269000-228269600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:228269000-228269600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:228269000-228269600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:228269000-228269600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:228269000-228269600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr1:228269000-228269600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr1:228269000-228269600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:228269000-228269600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:228269000-228269600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:228269000-228269600	Flanking Active TSS	Liver	Liver
37	chr1:228269000-228269600	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr1:228269000-228269600	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr1:228269000-228269600	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr1:228269000-228269600	Flanking Active TSS	Colonic Mucosa	Colon
41	chr1:228269000-228269600	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr1:228269000-228269600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:228269000-228269600	Enhancers	Fetal Brain Male	brain
44	chr1:228269000-228269600	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr1:228269000-228269600	Flanking Active TSS	Placenta	Placenta
46	chr1:228269000-228269600	Flanking Active TSS	Fetal Thymus	thymus
47	chr1:228269000-228269600	Flanking Active TSS	Pancreas	Pancrea
48	chr1:228269000-228269600	Flanking Active TSS	Psoas Muscle	Psoas
49	chr1:228269000-228269600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr1:228269000-228269600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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