Variant report

Variant	nsv508404
Chromosome Location	chr1:93547383-93580012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:61)
Chromatin interactive
region (count:39)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:93558969-93559036	K562	blood:	n/a	n/a
2	BATF	chr1:93553129-93553434	GM12878	blood:	n/a	n/a
3	BHLHE40	chr1:93552794-93552924	GM12878	blood:	n/a	n/a
4	BRCA1	chr1:93573994-93574072	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr1:93577453-93577490	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr1:93549542-93549902	K562	blood:	n/a	n/a
7	CBX3	chr1:93572817-93573224	K562	blood:	n/a	n/a
8	CBX3	chr1:93573918-93574246	K562	blood:	n/a	n/a
9	CBX3	chr1:93573785-93574326	K562	blood:	n/a	n/a
10	CEBPB	chr1:93555314-93555512	K562	blood:	n/a	chr1:93555457-93555468
11	CEBPB	chr1:93555305-93555517	HepG2	liver:	n/a	chr1:93555457-93555468
12	CEBPB	chr1:93579981-93580250	HepG2	liver:	n/a	n/a
13	CEBPB	chr1:93555386-93555492	H1-hESC	embryonic stem cell:	n/a	chr1:93555457-93555468
14	CEBPB	chr1:93547331-93547587	HepG2	liver:	n/a	n/a
15	CEBPB	chr1:93547323-93547643	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr1:93580008-93580276	A549	lung:	n/a	n/a
17	CEBPB	chr1:93547350-93547617	A549	lung:	n/a	n/a
18	CEBPB	chr1:93547267-93547681	IMR90	lung:	n/a	n/a
19	CEBPB	chr1:93579986-93580316	IMR90	lung:	n/a	n/a
20	CTCF	chr1:93575240-93575390	K562	blood:	n/a	n/a
21	CTCF	chr1:93577393-93577421	Spleen_OC	spleen:	n/a	n/a
22	CUX1	chr1:93561824-93562002	GM12878	blood:	n/a	n/a
23	E2F4	chr1:93547376-93547559	MCF10A-Er-Src	breast:	n/a	n/a
24	EBF1	chr1:93549228-93549331	GM12878	blood:	n/a	n/a
25	EBF1	chr1:93553490-93553669	GM12878	blood:	n/a	n/a
26	EP300	chr1:93574083-93574178	K562	blood:	n/a	n/a
27	EP300	chr1:93554958-93554964	K562	blood:	n/a	n/a
28	FOS	chr1:93577130-93577460	MCF10A-Er-Src	breast:	n/a	chr1:93577290-93577301 chr1:93577291-93577300
29	FOS	chr1:93579993-93580347	MCF10A-Er-Src	breast:	n/a	chr1:93580172-93580179 chr1:93580171-93580179 chr1:93580171-93580179
30	FOS	chr1:93577152-93577454	MCF10A-Er-Src	breast:	n/a	chr1:93577290-93577301 chr1:93577291-93577300
31	FOS	chr1:93577105-93577460	MCF10A-Er-Src	breast:	n/a	chr1:93577290-93577301 chr1:93577291-93577300
32	FOS	chr1:93580001-93580341	MCF10A-Er-Src	breast:	n/a	chr1:93580172-93580179 chr1:93580171-93580179 chr1:93580171-93580179
33	FOS	chr1:93565234-93565370	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr1:93577140-93577459	HUVEC	blood vessel:	n/a	chr1:93577290-93577301 chr1:93577291-93577300
35	FOS	chr1:93577136-93577435	MCF10A-Er-Src	breast:	n/a	chr1:93577290-93577301 chr1:93577291-93577300
36	FOS	chr1:93547412-93547671	MCF10A-Er-Src	breast:	n/a	n/a
37	FOXA1	chr1:93558930-93559170	T-47D	breast:	n/a	n/a
38	IKZF1	chr1:93553249-93553326	GM12878	blood:	n/a	n/a
39	JUND	chr1:93577143-93577417	K562	blood:	n/a	chr1:93577291-93577300
40	KAP1	chr1:93573800-93574378	HEK293	kidney:	n/a	n/a
41	KAP1	chr1:93573918-93574444	U2OS	brain:	n/a	n/a
42	KAP1	chr1:93573780-93574543	K562	blood:	n/a	n/a
43	KAP1	chr1:93549192-93549810	K562	blood:	n/a	n/a
44	MAFF	chr1:93574029-93574210	HepG2	liver:	n/a	n/a
45	MAFF	chr1:93574092-93574237	K562	blood:	n/a	n/a
46	MAFK	chr1:93578858-93578974	K562	blood:	n/a	n/a
47	MAFK	chr1:93574155-93574221	HepG2	liver:	n/a	n/a
48	MAFK	chr1:93574104-93574315	HepG2	liver:	n/a	n/a
49	MAFK	chr1:93558956-93559041	K562	blood:	n/a	n/a
50	MEF2A	chr1:93549569-93549899	K562	blood:	n/a	chr1:93549696-93549711

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:93548743-93548793	PFSK-1	brain:	n/a
2	chr1:93548743-93548793	HAEpiC	amniotic membrane:	n/a
3	chr1:93548743-93548793	HepG2	liver:	n/a
4	chr1:93548743-93548793	NT2-D1	testis:	n/a
5	chr1:93548743-93548793	HCF	heart:	n/a
6	chr1:93548743-93548793	AG04449	skin:	fetal
7	chr1:93548743-93548793	BJ	skin:	n/a
8	chr1:93548743-93548793	K562	blood:	n/a
9	chr1:93548743-93548793	HCPEpiC	choroid plexus:	n/a
10	chr1:93548743-93548793	Hepatocyte	liver:	n/a
11	chr1:93548743-93548793	ovcar-3	ovarian:	n/a
12	chr1:93548743-93548793	HEEpiC	esophagus:	n/a
13	chr1:93548743-93548793	HUVEC	blood vessel:	n/a
14	chr1:93548743-93548793	HNPCEpiC	eye:	n/a
15	chr1:93548743-93548793	SK-N-SH_RA	brain:	n/a
16	chr1:93548743-93548793	SK-N-SH	brain:	n/a
17	chr1:93548743-93548793	SAEC	small airway:	n/a
18	chr1:93548743-93548793	MCF10A-Er-Src	breast:	n/a
19	chr1:93548743-93548793	GM12892	blood:	n/a
20	chr1:93548743-93548793	ECC-1	luminal epithelium:	n/a
21	chr1:93548743-93548793	T-47D	breast:	n/a
22	chr1:93548743-93548793	PrEC	prostate:	n/a
23	chr1:93548743-93548793	AG09309	skin:	n/a
24	chr1:93548743-93548793	SK-N-MC	brain:	n/a
25	chr1:93548743-93548793	NH-A	brain:	n/a
26	chr1:93548743-93548793	Jurkat	blood:	n/a
27	chr1:93548743-93548793	H1-hESC	embryonic stem cell:	embryo
28	chr1:93548743-93548793	ProgFib	skin:	n/a
29	chr1:93548743-93548793	IMR90	lung:	fetal
30	chr1:93548743-93548793	NHBE	bronchial:	n/a
31	chr1:93548743-93548793	HIPEpiC	eye:	n/a
32	chr1:93548743-93548793	HCM	heart:	n/a
33	chr1:93548743-93548793	GM12891	blood:	n/a
34	chr1:93548743-93548793	HL-60	blood:	n/a
35	chr1:93548743-93548793	NB4	blood:	n/a
36	chr1:93548743-93548793	SKMC	muscle:	n/a
37	chr1:93548743-93548793	AG10803	skin:	n/a
38	chr1:93548743-93548793	HEK293	kidney:	embryo
39	chr1:93548743-93548793	A549	lung:	n/a
40	chr1:93548743-93548793	RPTEC	kidney:	n/a
41	chr1:93548743-93548793	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:93548743-93548793	AG04450	lung:	fetal
43	chr1:93548743-93548793	CMK	blood:	n/a
44	chr1:93548743-93548793	U87	brain:	n/a
45	chr1:93548743-93548793	AoSMC	blood vessel:	n/a
46	chr1:93548743-93548793	BE2_C	brain:	n/a
47	chr1:93548743-93548793	GM06990	blood:	n/a
48	chr1:93548743-93548793	GM19239	blood:	n/a
49	chr1:93548743-93548793	Caco-2	colon:	n/a
50	chr1:93548743-93548793	LNCaP	prostate:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93551802..93553578-chr1:93556864..93558399,2	K562	blood:
2	chr1:93562093..93564455-chr1:93570200..93572594,2	MCF-7	breast:
3	chr1:93543021..93545328-chr1:93569876..93572633,2	MCF-7	breast:
4	chr1:93544793..93547390-chr1:93553963..93556551,2	K562	blood:
5	chr1:93552564..93555090-chr1:93558595..93561512,2	K562	blood:
6	chr1:93547200..93550185-chr1:93552218..93553883,2	K562	blood:
7	chr1:93563011..93566516-chr1:93567594..93571757,4	K562	blood:
8	chr1:93546586..93549487-chr1:93625233..93628392,3	K562	blood:
9	chr1:93543191..93547486-chr1:93556671..93562707,7	K562	blood:
10	chr1:93558912..93561243-chr1:93575339..93577628,2	K562	blood:
11	chr1:93561194..93562759-chr1:93579663..93581219,2	K562	blood:
12	chr1:93543543..93546414-chr1:93558112..93561529,3	K562	blood:
13	chr1:93560323..93561849-chr1:93563032..93565508,2	K562	blood:
14	chr1:93516477..93519592-chr1:93550501..93553219,3	K562	blood:
15	chr1:93546982..93548985-chr1:93566193..93568747,2	MCF-7	breast:
16	chr1:93551871..93559721-chr1:93563340..93568184,9	K562	blood:
17	chr1:93548731..93551569-chr1:93563538..93565587,2	MCF-7	breast:
18	chr1:93559141..93562193-chr1:93563032..93566364,5	K562	blood:
19	chr1:93567850..93570397-chr1:93578761..93580603,2	K562	blood:
20	chr1:93558661..93560672-chr1:93667735..93669821,2	K562	blood:
21	chr1:93563011..93566516-chr1:93567594..93571757,4	K562	blood:
22	chr1:93579998..93581880-chr1:93596682..93599849,3	K562	blood:
23	chr1:93547200..93550185-chr1:93552218..93553883,2	K562	blood:
24	chr1:93544774..93547373-chr1:93547671..93549530,3	K562	blood:
25	chr1:93543139..93547854-chr1:93556364..93561572,7	MCF-7	breast:
26	chr1:93570456..93572672-chr1:93587819..93590538,2	K562	blood:
27	chr1:93577366..93579153-chr1:93581090..93583964,2	K562	blood:
28	chr1:93560323..93561849-chr1:93563032..93565508,2	K562	blood:
29	chr1:93548731..93551569-chr1:93563538..93565587,2	MCF-7	breast:
30	chr1:93543004..93547588-chr1:93644888..93649088,6	K562	blood:
31	chr1:93552564..93555090-chr1:93558595..93561512,2	K562	blood:
32	chr1:93551871..93559721-chr1:93563340..93568184,9	K562	blood:
33	chr1:93561194..93562759-chr1:93579663..93581219,2	K562	blood:
34	chr1:93559141..93562193-chr1:93563032..93566364,5	K562	blood:
35	chr1:93546982..93548985-chr1:93566193..93568747,2	MCF-7	breast:
36	chr1:93567850..93570397-chr1:93578761..93580603,2	K562	blood:
37	chr1:93551802..93553578-chr1:93556864..93558399,2	K562	blood:
38	chr1:93562093..93564455-chr1:93570200..93572594,2	MCF-7	breast:
39	chr1:93562038..93564841-chr1:93643723..93646566,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMED5-5	chr1:93577452-93577867	l_87_chr1:93543457-93583977_testes
2	lnc-TMED5-5	chr1:93563881-93564040	l_87_chr1:93543457-93583977_testes
3	lnc-TMED5-5	chr1:93562779-93562879	l_87_chr1:93543457-93583977_testes
4	lnc-TMED5-5	chr1:93578603-93578840	l_87_chr1:93543457-93583977_testes
5	lnc-TMED5-5	chr1:93575227-93577419	l_87_chr1:93543457-93583977_testes

No data

Variant related genes	Relation type
MTF2	TF binding region
MTF2	CpG island
ENSG00000117500	chromatin interactions
ENSG00000122483	chromatin interactions
ENSG00000143033	chromatin interactions

Extended variants
information (count: 1137 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1137 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542724870	chr1:93547400-93547401	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531270003	chr1:93547407-93547408	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550794295	chr1:93547447-93547448	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs76738135	chr1:93547477-93547478	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs577541348	chr1:93547514-93547515	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs558155236	chr1:93547589-93547590	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs567110729	chr1:93547616-93547617	Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs540190242	chr1:93547661-93547662	Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs555769000	chr1:93547678-93547679	Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs180844839	chr1:93547700-93547701	Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369277272	chr1:93547704-93547705	Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112850095	chr1:93547757-93547758	Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560420476	chr1:93547773-93547774	Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544704089	chr1:93547782-93547783	Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs61800884	chr1:93547828-93547829	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201306364	chr1:93547830-93547831	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs67547294	chr1:93547831-93547832	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs80126989	chr1:93547843-93547844	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs398103023	chr1:93547846-93547847	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556424265	chr1:93547889-93547890	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577760818	chr1:93547897-93547898	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376307866	chr1:93547902-93547903	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs6688132	chr1:93547918-93547919	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs6688133	chr1:93547924-93547925	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529132552	chr1:93547927-93547928	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs6679750	chr1:93547929-93547930	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs527535915	chr1:93547944-93547945	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs114461377	chr1:93547962-93547963	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560531053	chr1:93547963-93547964	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555815988	chr1:93547996-93547997	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531332051	chr1:93548003-93548004	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201065659	chr1:93548005-93548006	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549461064	chr1:93548019-93548020	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569146922	chr1:93548036-93548037	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542424466	chr1:93548076-93548077	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139708200	chr1:93548123-93548124	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551902064	chr1:93548174-93548175	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567071475	chr1:93548186-93548187	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534474624	chr1:93548196-93548197	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373444317	chr1:93548229-93548230	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35946910	chr1:93548252-93548253	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567645841	chr1:93548270-93548271	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538391580	chr1:93548286-93548287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs1136445	chr1:93548294-93548295	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562335234	chr1:93548309-93548310	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538567535	chr1:93548310-93548311	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186102098	chr1:93548404-93548405	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs578015623	chr1:93548435-93548436	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192207757	chr1:93548437-93548438	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553904646	chr1:93548443-93548444	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	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
Papillary thyroid carcinoma	21436994	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
Breast cancer	17603634	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
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1261 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93543800-93547400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:93543800-93547400	Active TSS	Fetal Kidney	kidney
3	chr1:93544000-93547400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:93544000-93547400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:93544000-93547400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:93544000-93547600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:93544000-93547600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:93544000-93548000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:93544200-93547400	Active TSS	Brain Anterior Caudate	brain
10	chr1:93544200-93547600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:93544200-93548400	Active TSS	GM12878-XiMat	blood
12	chr1:93544400-93547800	Active TSS	Fetal Thymus	thymus
13	chr1:93544400-93547800	Active TSS	Thymus	Thymus
14	chr1:93545000-93547600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:93545200-93547400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:93545200-93547600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr1:93545400-93547400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:93545400-93548400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr1:93545600-93547400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:93545600-93547600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:93545600-93547600	Active TSS	Brain Germinal Matrix	brain
22	chr1:93545600-93548000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr1:93545600-93548200	Active TSS	Fetal Brain Female	brain
24	chr1:93545800-93547400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:93545800-93547800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:93545800-93547800	Weak transcription	Lung	lung
27	chr1:93545800-93549000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr1:93545800-93551000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:93545800-93551000	Weak transcription	Left Ventricle	heart
30	chr1:93545800-93555400	Weak transcription	Spleen	Spleen
31	chr1:93545800-93563200	Weak transcription	Esophagus	oesophagus
32	chr1:93545800-93568000	Weak transcription	Gastric	stomach
33	chr1:93545800-93578400	Weak transcription	Pancreas	Pancrea
34	chr1:93546000-93547600	Enhancers	Brain Substantia Nigra	brain
35	chr1:93546000-93548000	Weak transcription	Small Intestine	intestine
36	chr1:93546000-93560600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:93546000-93573000	Weak transcription	Placenta	Placenta
38	chr1:93546200-93548000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:93546200-93549000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr1:93546200-93563200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:93546200-93602200	Weak transcription	Aorta	Aorta
42	chr1:93546400-93547400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:93546400-93547400	Enhancers	Brain Cingulate Gyrus	brain
44	chr1:93546400-93547400	Flanking Active TSS	Osteobl	bone
45	chr1:93546400-93547600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr1:93546400-93547600	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:93546400-93547600	Flanking Active TSS	NH-A	brain
48	chr1:93546400-93547600	Flanking Active TSS	NHEK	skin
49	chr1:93546400-93547800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:93546400-93547800	Flanking Active TSS	HUVEC	blood vessel

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