Variant report

Variant	nsv4089
Chromosome Location	chr3:160284848-160330024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:316)
CpG islands
(count:122)
Chromatin interactive
region (count:38)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr3:160292437-160292767	GM12878	blood:	n/a	n/a
2	BHLHE40	chr3:160295772-160295876	K562	blood:	n/a	n/a
3	CEBPB	chr3:160317844-160318203	Hela-S3	cervix:	n/a	chr3:160318029-160318040 chr3:160318027-160318038 chr3:160318027-160318040 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318027-160318040
4	CEBPB	chr3:160317856-160318196	K562	blood:	n/a	chr3:160318029-160318040 chr3:160318027-160318038 chr3:160318027-160318040 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318027-160318040
5	CEBPB	chr3:160299612-160299787	A549	lung:	n/a	n/a
6	CEBPB	chr3:160299732-160299769	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr3:160317859-160318196	IMR90	lung:	n/a	chr3:160318029-160318040 chr3:160318027-160318038 chr3:160318027-160318040 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318027-160318040
8	CEBPB	chr3:160288078-160288279	K562	blood:	n/a	n/a
9	CEBPB	chr3:160317946-160318178	H1-hESC	embryonic stem cell:	n/a	chr3:160318029-160318040 chr3:160318027-160318038 chr3:160318027-160318040 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318027-160318040
10	CEBPB	chr3:160288028-160288376	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr3:160317847-160318199	HepG2	liver:	n/a	chr3:160318029-160318040 chr3:160318027-160318038 chr3:160318027-160318040 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318027-160318040
12	CEBPB	chr3:160317884-160318198	A549	lung:	n/a	chr3:160318029-160318040 chr3:160318027-160318038 chr3:160318027-160318040 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318029-160318038 chr3:160318027-160318040
13	CHD2	chr3:160296124-160296298	K562	blood:	n/a	n/a
14	CTCF	chr3:160293440-160293590	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr3:160295500-160295650	A549	lung:	n/a	n/a
16	CTCF	chr3:160295400-160295550	GM12872	blood:	n/a	n/a
17	CTCF	chr3:160295382-160295699	HepG2	liver:	n/a	n/a
18	CTCF	chr3:160295440-160295590	NHEK	skin:	n/a	n/a
19	CTCF	chr3:160295440-160295590	GM12873	blood:	n/a	n/a
20	CTCF	chr3:160295408-160295661	LNCaP	prostate:	n/a	n/a
21	CTCF	chr3:160295460-160295610	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr3:160295360-160295510	GM12870	blood:	n/a	n/a
23	CTCF	chr3:160295420-160295570	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr3:160295460-160295610	AG09319	gingival:	n/a	n/a
25	CTCF	chr3:160295410-160295660	LNCaP	prostate:	n/a	n/a
26	CTCF	chr3:160295480-160295630	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr3:160291731-160291779	MCF-7	breast:	n/a	n/a
28	CTCF	chr3:160291725-160291806	MCF-7	breast:	n/a	n/a
29	CTCF	chr3:160295460-160295610	Caco-2	colon:	n/a	n/a
30	CTCF	chr3:160327639-160327732	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:160295480-160295630	MCF-7	breast:	n/a	n/a
32	CTCF	chr3:160295246-160295865	HCT-116	colon:	n/a	n/a
33	CTCF	chr3:160295368-160295637	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr3:160295480-160295630	HCT-116	colon:	n/a	n/a
35	CTCF	chr3:160295440-160295590	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr3:160295480-160295630	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr3:160295444-160295617	A549	lung:	n/a	n/a
38	CTCF	chr3:160295420-160295570	HMF	breast:	n/a	n/a
39	CTCF	chr3:160295520-160295670	HCT-116	colon:	n/a	n/a
40	CTCF	chr3:160295317-160295717	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr3:160295447-160295602	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr3:160295500-160295650	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr3:160327658-160327715	MCF-7	breast:	n/a	n/a
44	CTCF	chr3:160295440-160295590	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr3:160295466-160295608	MCF-7	breast:	n/a	n/a
46	CTCF	chr3:160295212-160295808	HCT-116	colon:	n/a	n/a
47	CTCF	chr3:160295440-160295590	MCF-7	breast:	n/a	n/a
48	CTCF	chr3:160295420-160295570	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr3:160309554-160309673	GM10248	blood:	n/a	n/a
50	CTCF	chr3:160295460-160295610	HPAF	blood vessel:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:160286309-160286359	HEK293	kidney:	embryo
2	chr3:160292014-160292064	HepG2	liver:	n/a
3	chr3:160292014-160292064	AG09309	skin:	n/a
4	chr3:160292014-160292064	GM06990	blood:	n/a
5	chr3:160286309-160286359	HIPEpiC	eye:	n/a
6	chr3:160286309-160286359	SK-N-SH	brain:	n/a
7	chr3:160292014-160292064	GM12892	blood:	n/a
8	chr3:160292014-160292064	PFSK-1	brain:	n/a
9	chr3:160286309-160286359	H1-hESC	embryonic stem cell:	embryo
10	chr3:160286309-160286359	GM12878	blood:	n/a
11	chr3:160286309-160286359	HCF	heart:	n/a
12	chr3:160286309-160286359	Caco-2	colon:	n/a
13	chr3:160292014-160292064	SK-N-SH	brain:	n/a
14	chr3:160292014-160292064	HCF	heart:	n/a
15	chr3:160292014-160292064	NH-A	brain:	n/a
16	chr3:160286309-160286359	BE2_C	brain:	n/a
17	chr3:160292014-160292064	SK-N-SH_RA	brain:	n/a
18	chr3:160286309-160286359	ovcar-3	ovarian:	n/a
19	chr3:160292014-160292064	PANC-1	pancreas:	n/a
20	chr3:160286309-160286359	BJ	skin:	n/a
21	chr3:160286309-160286359	HEEpiC	esophagus:	n/a
22	chr3:160286309-160286359	HRPEpiC	eye:	n/a
23	chr3:160292014-160292064	Jurkat	blood:	n/a
24	chr3:160292014-160292064	GM12878	blood:	n/a
25	chr3:160292014-160292064	T-47D	breast:	n/a
26	chr3:160286309-160286359	Jurkat	blood:	n/a
27	chr3:160292014-160292064	GM19239	blood:	n/a
28	chr3:160292014-160292064	NHDF-neo	bronchial:	n/a
29	chr3:160286309-160286359	GM06990	blood:	n/a
30	chr3:160286309-160286359	HAEpiC	amniotic membrane:	n/a
31	chr3:160286309-160286359	K562	blood:	n/a
32	chr3:160286309-160286359	HCT-116	colon:	n/a
33	chr3:160286309-160286359	AG09309	skin:	n/a
34	chr3:160286309-160286359	A549	lung:	n/a
35	chr3:160286309-160286359	PFSK-1	brain:	n/a
36	chr3:160292014-160292064	RPTEC	kidney:	n/a
37	chr3:160286309-160286359	HPAEpiC	pulmonary alveolar:	n/a
38	chr3:160292014-160292064	NHBE	bronchial:	n/a
39	chr3:160286309-160286359	NT2-D1	testis:	n/a
40	chr3:160292014-160292064	NB4	blood:	n/a
41	chr3:160286309-160286359	HMEC	breast:	n/a
42	chr3:160286309-160286359	AoSMC	blood vessel:	n/a
43	chr3:160292014-160292064	SAEC	small airway:	n/a
44	chr3:160286309-160286359	AG04449	skin:	fetal
45	chr3:160292014-160292064	AoSMC	blood vessel:	n/a
46	chr3:160286309-160286359	Hepatocyte	liver:	n/a
47	chr3:160292014-160292064	HCPEpiC	choroid plexus:	n/a
48	chr3:160292014-160292064	MCF10A-Er-Src	breast:	n/a
49	chr3:160292014-160292064	HIPEpiC	eye:	n/a
50	chr3:160286309-160286359	AG09319	gingival:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160298293..160300103-chr3:160301401..160303675,2	K562	blood:
2	chr3:160295312..160296053-chr3:160437882..160438456,2	MCF-7	breast:
3	chr3:160295403..160295909-chr3:160646472..160647441,2	MCF-7	breast:
4	chr3:160295180..160296212-chr3:160647263..160648035,3	MCF-7	breast:
5	chr3:160295112..160295791-chr3:160424939..160425848,2	MCF-7	breast:
6	chr3:160329547..160332346-chr3:160334349..160336341,2	MCF-7	breast:
7	chr3:160287495..160289317-chr3:160290381..160292497,2	MCF-7	breast:
8	chr3:160291959..160293841-chr3:160293895..160296862,2	MCF-7	breast:
9	chr3:160295473..160296006-chr3:160659447..160660328,2	MCF-7	breast:
10	chr3:160298872..160300468-chr3:160304100..160306105,2	K562	blood:
11	chr3:160283940..160285450-chr3:160615573..160617691,2	MCF-7	breast:
12	chr3:160281906..160285341-chr3:160285654..160289811,8	MCF-7	breast:
13	chr3:160293262..160295786-chr3:160297388..160301495,3	K562	blood:
14	chr3:160293262..160295786-chr3:160297388..160301495,3	K562	blood:
15	chr3:160320944..160322813-chr3:160343782..160345791,2	K562	blood:
16	chr3:160287495..160289317-chr3:160290381..160292497,2	MCF-7	breast:
17	chr3:160295347..160297604-chr3:160471371..160473268,2	MCF-7	breast:
18	chr3:160283415..160285026-chr3:160392303..160394437,2	MCF-7	breast:
19	chr3:160282107..160285570-chr3:161087865..161089951,3	MCF-7	breast:
20	chr3:160291959..160293841-chr3:160293895..160296862,2	MCF-7	breast:
21	chr3:160281773..160285501-chr3:160290446..160296863,5	MCF-7	breast:
22	chr3:160165801..160167391-chr3:160284829..160286413,2	K562	blood:
23	chr3:160284666..160286841-chr3:160302799..160304775,2	MCF-7	breast:
24	chr3:160292624..160294762-chr3:160297394..160300194,2	K562	blood:
25	chr3:160165891..160168986-chr3:160283501..160286413,4	K562	blood:
26	chr3:160283211..160285094-chr3:160322353..160324060,2	K562	blood:
27	chr3:160325496..160327314-chr3:160330515..160332023,2	K562	blood:
28	chr3:160283419..160285126-chr3:160300459..160303430,2	K562	blood:
29	chr3:160292624..160294762-chr3:160297394..160300194,2	K562	blood:
30	chr3:160156708..160158312-chr3:160288090..160290046,2	K562	blood:
31	chr3:160329028..160331668-chr3:160347387..160349063,2	K562	blood:
32	chr3:160117430..160118937-chr3:160282575..160284958,2	K562	blood:
33	chr3:160281944..160285318-chr3:160296598..160300496,4	MCF-7	breast:
34	chr3:160284601..160286710-chr3:160293611..160295501,2	MCF-7	breast:
35	chr3:160282613..160284767-chr3:160285868..160288833,4	MCF-7	breast:
36	chr3:160117430..160119957-chr3:160282536..160285548,3	K562	blood:
37	chr3:160284958..160287547-chr3:160290601..160292287,2	MCF-7	breast:
38	chr3:160298872..160300468-chr3:160304100..160306105,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL14-1	chr3:160302733-160303575	NONHSAT093000

No data

Variant related genes	Relation type
KPNA4	TF binding region
KRT8P12	TF binding region
RPL6P8	TF binding region
KPNA4	CpG island
KRT8P12	CpG island
RPL6P8	CpG island
ENSG00000113810	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000213186	chromatin interactions
ENSG00000229320	chromatin interactions
ENSG00000260572	chromatin interactions
ENSG00000068885	chromatin interactions
ENSG00000242285	chromatin interactions
ENSG00000186432	chromatin interactions

Extended variants
information (count: 948 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:948 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139085614	chr3:160284963-160284964	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs13326919	chr3:160284988-160284989	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs556239847	chr3:160285011-160285012	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs570031626	chr3:160285022-160285023	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs188753615	chr3:160285088-160285089	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs559069442	chr3:160285167-160285168	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs572590445	chr3:160285197-160285198	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs576248073	chr3:160285237-160285238	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs62272806	chr3:160285283-160285284	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555152336	chr3:160285284-160285285	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs549565971	chr3:160285308-160285309	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs35713638	chr3:160285314-160285315	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs561517547	chr3:160285331-160285332	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs181516439	chr3:160285358-160285359	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs563867020	chr3:160285421-160285422	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs149348007	chr3:160285427-160285428	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs144179179	chr3:160285481-160285482	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs187014084	chr3:160285538-160285539	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs527401570	chr3:160285567-160285568	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs190207801	chr3:160285572-160285573	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs567459051	chr3:160285600-160285601	Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs529896551	chr3:160285642-160285643	Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550043703	chr3:160285732-160285733	Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs572651941	chr3:160285800-160285801	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs569888584	chr3:160285822-160285823	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs539004605	chr3:160285848-160285849	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs4679895	chr3:160285898-160285899	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs566136436	chr3:160285900-160285901	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs535122981	chr3:160285945-160285946	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs554810679	chr3:160285965-160285966	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs574966337	chr3:160285968-160285969	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs543689938	chr3:160286035-160286036	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs557611152	chr3:160286060-160286061	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs62272807	chr3:160286066-160286067	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs577140747	chr3:160286067-160286068	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs544571432	chr3:160286079-160286080	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs77315991	chr3:160286091-160286092	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs571762126	chr3:160286117-160286118	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs540725894	chr3:160286127-160286128	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs182395908	chr3:160286139-160286140	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs529885545	chr3:160286203-160286204	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs186434479	chr3:160286207-160286208	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs549729482	chr3:160286227-160286228	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs563561531	chr3:160286228-160286229	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs189653964	chr3:160286300-160286301	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs182293000	chr3:160286310-160286311	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs566075124	chr3:160286354-160286355	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs535058024	chr3:160286384-160286385	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs548647783	chr3:160286398-160286399	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs568489350	chr3:160286426-160286427	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160281200-160285000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr3:160281200-160285000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr3:160281200-160285000	Active TSS	HSMMtube	muscle
4	chr3:160281200-160285200	Active TSS	Psoas Muscle	Psoas
5	chr3:160281400-160285000	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr3:160281400-160285000	Active TSS	HMEC	breast
7	chr3:160281400-160285200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr3:160281400-160285600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:160281600-160285000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:160281600-160285000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:160281600-160285200	Active TSS	NHLF	lung
12	chr3:160282000-160285000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr3:160282000-160285200	Active TSS	K562	blood
14	chr3:160282000-160285400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr3:160282000-160285400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:160282200-160285000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:160282200-160285000	Active TSS	Brain Hippocampus Middle	brain
18	chr3:160282200-160285000	Active TSS	Stomach Smooth Muscle	stomach
19	chr3:160283600-160285200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:160283800-160285000	Flanking Active TSS	Dnd41	blood
21	chr3:160284000-160285600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:160284000-160285600	Weak transcription	Spleen	Spleen
23	chr3:160284200-160285000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:160284200-160285000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr3:160284200-160285200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:160284200-160285200	Flanking Active TSS	Hela-S3	cervix
27	chr3:160284200-160285200	Flanking Active TSS	Osteobl	bone
28	chr3:160284200-160285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:160284200-160285600	Weak transcription	Lung	lung
30	chr3:160284200-160285800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:160284200-160285800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:160284200-160285800	Weak transcription	Esophagus	oesophagus
33	chr3:160284200-160285800	Weak transcription	Gastric	stomach
34	chr3:160284200-160286200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:160284200-160286400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:160284200-160289600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:160284400-160285000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr3:160284400-160285000	Flanking Active TSS	A549	lung
39	chr3:160284400-160285200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:160284400-160285200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:160284400-160285200	Flanking Active TSS	HUVEC	blood vessel
42	chr3:160284400-160285400	Flanking Active TSS	NH-A	brain
43	chr3:160284400-160286200	Weak transcription	Pancreas	Pancrea
44	chr3:160284400-160286600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr3:160284400-160286800	Weak transcription	Fetal Thymus	thymus
46	chr3:160284600-160285000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:160284600-160285000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr3:160284600-160285000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr3:160284600-160285000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:160284600-160285000	Enhancers	Liver	Liver

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