Variant report

Variant	esv3340963
Chromosome Location	chr1:45270390-45273238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:632)
CpG islands
(count:428)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:45273063-45273889	K562	blood:	n/a	n/a
2	ARID3A	chr1:45272798-45274164	HepG2	liver:	n/a	n/a
3	ATF1	chr1:45272896-45273773	K562	blood:	n/a	n/a
4	ATF2	chr1:45272775-45273361	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:45272969-45274105	GM12878	blood:	n/a	n/a
6	ATF2	chr1:45272786-45273908	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:45272773-45274170	GM12878	blood:	n/a	n/a
8	ATF3	chr1:45272890-45273792	K562	blood:	n/a	n/a
9	ATF3	chr1:45272821-45273765	A549	lung:	n/a	n/a
10	ATF3	chr1:45272744-45273678	K562	blood:	n/a	n/a
11	BACH1	chr1:45273048-45273906	H1-hESC	embryonic stem cell:	n/a	chr1:45273215-45273229
12	BCL3	chr1:45272791-45274178	A549	lung:	n/a	chr1:45273923-45273932 chr1:45273924-45273933 chr1:45272888-45272897 chr1:45273048-45273061 chr1:45273904-45273913 chr1:45272889-45272898
13	BCL3	chr1:45272781-45274173	A549	lung:	n/a	chr1:45273923-45273932 chr1:45273924-45273933 chr1:45272888-45272897 chr1:45273048-45273061 chr1:45273904-45273913 chr1:45272889-45272898
14	BCL3	chr1:45272933-45273322	GM12878	blood:	n/a	chr1:45273048-45273061
15	BCLAF1	chr1:45272734-45273980	K562	blood:	n/a	chr1:45273923-45273932 chr1:45273924-45273933 chr1:45272888-45272897 chr1:45273048-45273061 chr1:45273904-45273913 chr1:45272889-45272898
16	BCLAF1	chr1:45272795-45274104	GM12878	blood:	n/a	chr1:45273923-45273932 chr1:45273924-45273933 chr1:45272888-45272897 chr1:45273048-45273061 chr1:45273904-45273913 chr1:45272889-45272898
17	BHLHE40	chr1:45272808-45274092	GM12878	blood:	n/a	chr1:45273544-45273560
18	BHLHE40	chr1:45272796-45274837	K562	blood:	n/a	chr1:45274208-45274224 chr1:45273544-45273560 chr1:45274214-45274230 chr1:45274206-45274222
19	BHLHE40	chr1:45272808-45274256	HepG2	liver:	n/a	chr1:45274208-45274224 chr1:45273544-45273560 chr1:45274214-45274230 chr1:45274206-45274222
20	BRCA1	chr1:45272961-45273574	GM12878	blood:	n/a	n/a
21	BRCA1	chr1:45272866-45273786	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr1:45272712-45273736	HepG2	liver:	n/a	n/a
23	CBX3	chr1:45272391-45274506	K562	blood:	n/a	n/a
24	CBX3	chr1:45272882-45273864	K562	blood:	n/a	n/a
25	CCNT2	chr1:45272956-45273806	K562	blood:	n/a	chr1:45273605-45273614
26	CCNT2	chr1:45271726-45272332	K562	blood:	n/a	n/a
27	CEBPB	chr1:45272838-45273885	IMR90	lung:	n/a	n/a
28	CEBPB	chr1:45272901-45273839	A549	lung:	n/a	n/a
29	CEBPB	chr1:45273000-45273617	K562	blood:	n/a	n/a
30	CEBPB	chr1:45272904-45273821	K562	blood:	n/a	n/a
31	CEBPB	chr1:45272941-45273635	HepG2	liver:	n/a	n/a
32	CEBPB	chr1:45272994-45273689	A549	lung:	n/a	n/a
33	CEBPB	chr1:45272850-45273857	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr1:45272673-45274106	GM12878	blood:	n/a	n/a
35	CEBPD	chr1:45272950-45273739	HepG2	liver:	n/a	n/a
36	CEBPD	chr1:45272920-45273922	K562	blood:	n/a	n/a
37	CHD1	chr1:45273019-45274057	GM12878	blood:	n/a	n/a
38	CHD2	chr1:45272968-45274111	K562	blood:	n/a	n/a
39	CHD2	chr1:45272712-45274017	HepG2	liver:	n/a	n/a
40	CHD2	chr1:45272951-45273744	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr1:45272864-45274305	GM12878	blood:	n/a	n/a
42	CHD2	chr1:45272742-45273898	Hela-S3	cervix:	n/a	n/a
43	CREB1	chr1:45272895-45273770	A549	lung:	n/a	n/a
44	CTBP2	chr1:45272637-45274583	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr1:45271480-45271630	SAEC	small airway:	n/a	n/a
46	CTCF	chr1:45271480-45271630	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr1:45271810-45272102	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr1:45271462-45271649	IMR90	lung:	n/a	n/a
49	CTCF	chr1:45271340-45271490	HCT-116	colon:	n/a	n/a
50	CTCF	chr1:45271525-45271592	K562	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:45272261-45272311	ProgFib	skin:	n/a
2	chr1:45272261-45272311	ProgFib	skin:	n/a
3	chr1:45271752-45271802	U87	brain:	n/a
4	chr1:45272633-45272683	HEEpiC	esophagus:	n/a
5	chr1:45272261-45272311	U87	brain:	n/a
6	chr1:45272255-45272305	HCM	heart:	n/a
7	chr1:45272255-45272305	PANC-1	pancreas:	n/a
8	chr1:45272633-45272683	SK-N-SH	brain:	n/a
9	chr1:45271752-45271802	NH-A	brain:	n/a
10	chr1:45272633-45272683	SK-N-MC	brain:	n/a
11	chr1:45270421-45270471	HUVEC	blood vessel:	n/a
12	chr1:45272637-45272687	HRE	kidney:	n/a
13	chr1:45272637-45272687	U87	brain:	n/a
14	chr1:45272255-45272305	GM12878	blood:	n/a
15	chr1:45272261-45272311	NHBE	bronchial:	n/a
16	chr1:45271680-45271730	NB4	blood:	n/a
17	chr1:45271680-45271730	SK-N-SH	brain:	n/a
18	chr1:45272633-45272683	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:45271752-45271802	K562	blood:	n/a
20	chr1:45272633-45272683	RPTEC	kidney:	n/a
21	chr1:45272255-45272305	SK-N-SH	brain:	n/a
22	chr1:45270421-45270471	GM06990	blood:	n/a
23	chr1:45271752-45271802	HEK293	kidney:	embryo
24	chr1:45272255-45272305	SKMC	muscle:	n/a
25	chr1:45272255-45272305	AG09319	gingival:	n/a
26	chr1:45272637-45272687	HNPCEpiC	eye:	n/a
27	chr1:45271752-45271802	GM06990	blood:	n/a
28	chr1:45272633-45272683	HRE	kidney:	n/a
29	chr1:45271752-45271802	NHDF-neo	bronchial:	n/a
30	chr1:45271752-45271802	HRCEpiC	kidney:	n/a
31	chr1:45272637-45272687	HUVEC	blood vessel:	n/a
32	chr1:45270421-45270471	PFSK-1	brain:	n/a
33	chr1:45272637-45272687	SKMC	muscle:	n/a
34	chr1:45272633-45272683	GM06990	blood:	n/a
35	chr1:45272261-45272311	H1-hESC	embryonic stem cell:	embryo
36	chr1:45272261-45272311	ECC-1	luminal epithelium:	n/a
37	chr1:45271752-45271802	AoSMC	blood vessel:	n/a
38	chr1:45271752-45271802	AG04450	lung:	fetal
39	chr1:45272261-45272311	Caco-2	colon:	n/a
40	chr1:45272633-45272683	PANC-1	pancreas:	n/a
41	chr1:45272637-45272687	HEEpiC	esophagus:	n/a
42	chr1:45270421-45270471	HIPEpiC	eye:	n/a
43	chr1:45272261-45272311	HRE	kidney:	n/a
44	chr1:45272261-45272311	MCF10A-Er-Src	breast:	n/a
45	chr1:45270421-45270471	SK-N-SH	brain:	n/a
46	chr1:45272637-45272687	SK-N-MC	brain:	n/a
47	chr1:45272637-45272687	HepG2	liver:	n/a
48	chr1:45272261-45272311	HepG2	liver:	n/a
49	chr1:45272637-45272687	LNCaP	prostate:	n/a
50	chr1:45272637-45272687	NHDF-neo	bronchial:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:2158623..2159165-chr1:45273083..45273727,2	Hela-S3	cervix:
2	chr1:45273175..45273962-chr5:180229025..180229957,2	Hela-S3	cervix:
3	chr1:45272934..45277358-chr1:45964626..45967668,4	K562	blood:
4	chr1:45272160..45275293-chr1:45804757..45807253,3	K562	blood:
5	chr1:45194189..45198394-chr1:45270401..45277394,13	MCF-7	breast:
6	chr1:45190324..45200952-chr1:45272085..45288310,59	MCF-7	breast:
7	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
8	chr1:45268954..45275189-chr1:45475024..45480055,7	K562	blood:
9	chr1:45272218..45273207-chr12:109124644..109125507,2	Hela-S3	cervix:
10	chr1:45184399..45189674-chr1:45270870..45279135,15	MCF-7	breast:
11	chr1:45271934..45274901-chr1:46048607..46050252,3	K562	blood:
12	chr1:45270955..45271946-chr17:58041780..58042468,2	Hela-S3	cervix:
13	chr1:45272804..45273405-chr19:39897695..39898336,2	Hela-S3	cervix:
14	chr1:45273104..45274002-chr10:74114318..74114867,2	Hela-S3	cervix:
15	chr1:45271675..45274360-chr1:46048607..46050864,2	K562	blood:
16	chr1:45240969..45242475-chr1:45269379..45271647,2	MCF-7	breast:
17	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
18	chr1:45272569..45273134-chr2:8818787..8819623,2	Hela-S3	cervix:
19	chr1:45248400..45253844-chr1:45268438..45273783,8	MCF-7	breast:
20	chr1:45271619..45273419-chr1:46014827..46017277,2	K562	blood:
21	chr1:45186115..45188704-chr1:45270219..45273209,3	MCF-7	breast:
22	chr1:45269727..45273120-chr1:45475175..45479286,6	K562	blood:
23	chr1:45271433..45273539-chr1:45450490..45453055,2	K562	blood:
24	chr1:19534198..19536846-chr1:45271936..45273759,2	K562	blood:
25	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:

No data

Variant related genes	Relation type
BTBD19	TF binding region
TCTEX1D4	TF binding region
BTBD19	CpG island
TCTEX1D4	CpG island
ENSG00000115738	chromatin interactions
ENSG00000207421	chromatin interactions
ENSG00000127481	chromatin interactions
ENSG00000236624	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000142959	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000117448	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000202031	chromatin interactions
ENSG00000126107	chromatin interactions
ENSG00000132763	chromatin interactions
ENSG00000142945	chromatin interactions
ENSG00000200913	chromatin interactions
ENSG00000132773	chromatin interactions
ENSG00000110880	chromatin interactions
ENSG00000235092	chromatin interactions
ENSG00000132780	chromatin interactions
ENSG00000264294	chromatin interactions
ENSG00000234093	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000267302	chromatin interactions
ENSG00000132781	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000070785	chromatin interactions
ENSG00000189050	chromatin interactions
ENSG00000198520	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200960803	chr1:45270412-45270413	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs377380771	chr1:45270422-45270423	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs370806330	chr1:45270454-45270455	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs375165981	chr1:45270463-45270464	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs376810502	chr1:45270469-45270470	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs375220499	chr1:45270472-45270473	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs529969877	chr1:45270505-45270506	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs17881427	chr1:45270515-45270516	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs569792806	chr1:45270544-45270545	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs17880363	chr1:45270560-45270561	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs551989367	chr1:45270563-45270564	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs565644484	chr1:45270578-45270579	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs181721892	chr1:45270604-45270605	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs375975364	chr1:45270633-45270634	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs574368328	chr1:45270634-45270635	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs17878296	chr1:45270637-45270638	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs556705501	chr1:45270638-45270639	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs17886650	chr1:45270639-45270640	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs372330984	chr1:45270694-45270695	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs17883524	chr1:45270708-45270709	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs4520451	chr1:45270733-45270734	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572074001	chr1:45270764-45270765	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs541010008	chr1:45270765-45270766	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs560995299	chr1:45270784-45270785	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs200571145	chr1:45270790-45270791	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs370027677	chr1:45270791-45270792	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs199871265	chr1:45270797-45270798	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs148724385	chr1:45270799-45270800	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs575998560	chr1:45270807-45270808	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs543362148	chr1:45270809-45270810	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs186791257	chr1:45270827-45270828	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs532230718	chr1:45270833-45270834	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs552217393	chr1:45270842-45270843	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs565766981	chr1:45270859-45270860	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs547666082	chr1:45270869-45270870	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs114354167	chr1:45270890-45270891	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs368690032	chr1:45270916-45270917	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs371354297	chr1:45270930-45270931	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs189573421	chr1:45270942-45270943	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs568101091	chr1:45270958-45270959	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs61732496	chr1:45270962-45270963	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs373854860	chr1:45271019-45271020	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs199603205	chr1:45271039-45271040	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs17883049	chr1:45271097-45271098	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs200770304	chr1:45271147-45271148	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs181156179	chr1:45271149-45271150	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs376069887	chr1:45271156-45271157	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs369647110	chr1:45271192-45271193	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs141071544	chr1:45271212-45271213	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs55654497	chr1:45271238-45271239	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45265600-45276600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:45266200-45270400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:45266600-45276400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:45266800-45272600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:45267200-45270400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
6	chr1:45267400-45272800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
7	chr1:45267600-45270400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:45267600-45272800	Genic enhancers	Spleen	Spleen
9	chr1:45267800-45272000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:45268000-45272400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:45268200-45271800	Weak transcription	Fetal Heart	heart
12	chr1:45268200-45271800	Weak transcription	Psoas Muscle	Psoas
13	chr1:45268200-45272200	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr1:45268200-45272200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:45268200-45272400	Genic enhancers	Pancreas	Pancrea
16	chr1:45268200-45272400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:45268200-45272400	Genic enhancers	Stomach Smooth Muscle	stomach
18	chr1:45268200-45272600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:45268200-45272600	Genic enhancers	Lung	lung
20	chr1:45268200-45274200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:45268400-45270400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:45268400-45270600	Strong transcription	Fetal Lung	lung
23	chr1:45268400-45271600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:45268400-45271800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:45268400-45271800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:45268400-45271800	Strong transcription	Aorta	Aorta
27	chr1:45268400-45271800	Strong transcription	Ovary	ovary
28	chr1:45268400-45271800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:45268400-45271800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:45268400-45272400	Strong transcription	Fetal Stomach	stomach
31	chr1:45268400-45272600	Genic enhancers	Right Ventricle	heart
32	chr1:45268400-45272800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:45268400-45272800	Genic enhancers	Placenta	Placenta
34	chr1:45268400-45272800	Strong transcription	Dnd41	blood
35	chr1:45268400-45273200	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr1:45268600-45270400	Genic enhancers	Brain Anterior Caudate	brain
37	chr1:45268600-45270400	Strong transcription	Rectal Smooth Muscle	rectum
38	chr1:45268600-45271000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:45268600-45271200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr1:45268600-45271200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:45268600-45271400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:45268600-45271600	Strong transcription	Liver	Liver
43	chr1:45268600-45271800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:45268600-45271800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:45268600-45272000	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr1:45268600-45272000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr1:45268600-45272200	Strong transcription	Fetal Intestine Large	intestine
48	chr1:45268600-45272200	Strong transcription	K562	blood
49	chr1:45268600-45272400	Strong transcription	Thymus	Thymus
50	chr1:45268600-45272400	Genic enhancers	HUVEC	blood vessel

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