Variant report

Variant	rs791285
Chromosome Location	chr1:147245655-147245656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr1:147245591-147245672	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF263	chr1:147245439-147245766	HEK293-T-REx	kidney:	n/a	chr1:147245680-147245689 chr1:147245606-147245627 chr1:147245557-147245578
3	ZNF143	chr1:147245419-147245770	H1-hESC	embryonic stem cell:	n/a	chr1:147245645-147245663 chr1:147245677-147245695

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:147245626-147245676	Hela-S3	cervix:	n/a
2	chr1:147245626-147245676	AG04449	skin:	fetal
3	chr1:147245626-147245676	HL-60	blood:	n/a
4	chr1:147245626-147245676	HCT-116	colon:	n/a
5	chr1:147245626-147245676	AG09309	skin:	n/a
6	chr1:147245626-147245676	GM12878	blood:	n/a
7	chr1:147245626-147245676	PFSK-1	brain:	n/a
8	chr1:147245626-147245676	BE2_C	brain:	n/a
9	chr1:147245626-147245676	NB4	blood:	n/a
10	chr1:147245626-147245676	NT2-D1	testis:	n/a
11	chr1:147245626-147245676	GM12891	blood:	n/a
12	chr1:147245626-147245676	HepG2	liver:	n/a
13	chr1:147245626-147245676	SK-N-MC	brain:	n/a
14	chr1:147245626-147245676	HCM	heart:	n/a
15	chr1:147245626-147245676	CMK	blood:	n/a
16	chr1:147245626-147245676	HPAEpiC	pulmonary alveolar:	n/a
17	chr1:147245626-147245676	HCF	heart:	n/a
18	chr1:147245626-147245676	HRE	kidney:	n/a
19	chr1:147245626-147245676	HRCEpiC	kidney:	n/a
20	chr1:147245626-147245676	RPTEC	kidney:	n/a
21	chr1:147245626-147245676	H1-hESC	embryonic stem cell:	embryo
22	chr1:147245626-147245676	ECC-1	luminal epithelium:	n/a
23	chr1:147245626-147245676	Jurkat	blood:	n/a
24	chr1:147245626-147245676	SAEC	small airway:	n/a
25	chr1:147245626-147245676	LNCaP	prostate:	n/a
26	chr1:147245626-147245676	A549	lung:	n/a
27	chr1:147245626-147245676	Caco-2	colon:	n/a
28	chr1:147245626-147245676	AG09319	gingival:	n/a
29	chr1:147245626-147245676	PrEC	prostate:	n/a
30	chr1:147245626-147245676	T-47D	breast:	n/a
31	chr1:147245626-147245676	HIPEpiC	eye:	n/a
32	chr1:147245626-147245676	GM19239	blood:	n/a
33	chr1:147245626-147245676	IMR90	lung:	fetal
34	chr1:147245626-147245676	HRPEpiC	eye:	n/a
35	chr1:147245626-147245676	SK-N-SH	brain:	n/a
36	chr1:147245626-147245676	GM06990	blood:	n/a
37	chr1:147245626-147245676	NHDF-neo	bronchial:	n/a
38	chr1:147245626-147245676	K562	blood:	n/a
39	chr1:147245626-147245676	HCPEpiC	choroid plexus:	n/a
40	chr1:147245626-147245676	HEEpiC	esophagus:	n/a
41	chr1:147245626-147245676	U87	brain:	n/a
42	chr1:147245626-147245676	BJ	skin:	n/a
43	chr1:147245626-147245676	HUVEC	blood vessel:	n/a
44	chr1:147245626-147245676	NH-A	brain:	n/a
45	chr1:147245626-147245676	HEK293	kidney:	embryo
46	chr1:147245626-147245676	SK-N-SH_RA	brain:	n/a
47	chr1:147245626-147245676	AG04450	lung:	fetal
48	chr1:147245626-147245676	GM12892	blood:	n/a
49	chr1:147245626-147245676	HMEC	breast:	n/a
50	chr1:147245626-147245676	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000234190	TF binding region
GJA5	TF binding region
ENSG00000234190	CpG island
GJA5	CpG island

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17160598	0.82[EUR][1000 genomes]
rs6593811	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72546658	1.00[EUR][1000 genomes]
rs791283	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs791287	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
3	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
4	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
9	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
18	nsv534063	chr1:146807433-147381411	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
19	nsv1001868	chr1:146893791-147389944	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
20	nsv872266	chr1:147020099-147381558	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
21	nsv831426	chr1:147089930-147265267	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
22	nsv1014715	chr1:147184218-147389944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
23	nsv997330	chr1:147185938-147313966	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv463506	chr1:147191841-147309443	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv547677	chr1:147191841-147309443	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
26	nsv463517	chr1:147191841-147375981	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
27	nsv547678	chr1:147191841-147375981	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
28	nsv1003830	chr1:147193906-147312095	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
29	nsv535143	chr1:147193906-147312095	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
30	nsv997321	chr1:147196527-147356634	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
31	nsv535144	chr1:147196527-147356634	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
32	nsv916522	chr1:147228396-147309062	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	nsv529086	chr1:147228667-147248718	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
34	nsv1067692	chr1:147228867-147248577	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
35	nsv491683	chr1:147228867-147248577	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
36	nsv831437	chr1:147234607-147392992	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
37	nsv916870	chr1:147245576-147828089	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	210 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147243000-147245800	Enhancers	Placenta	Placenta
2	chr1:147243000-147246200	Enhancers	Lung	lung
3	chr1:147244200-147245800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:147244200-147246200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr1:147244200-147246600	Enhancers	Right Ventricle	heart
6	chr1:147244400-147245800	Weak transcription	Spleen	Spleen
7	chr1:147244600-147245800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:147244600-147245800	Bivalent/Poised TSS	Fetal Lung	lung
9	chr1:147244600-147246200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:147244800-147245800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:147244800-147246000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:147245000-147245800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:147245200-147245800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:147245200-147245800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:147245200-147245800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr1:147245200-147245800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr1:147245200-147246000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:147245200-147246000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:147245400-147245800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
20	chr1:147245400-147245800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:147245400-147245800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:147245400-147245800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:147245400-147245800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:147245400-147245800	Flanking Active TSS	Aorta	Aorta
25	chr1:147245400-147245800	Enhancers	Fetal Muscle Trunk	muscle
26	chr1:147245400-147245800	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr1:147245400-147245800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
28	chr1:147245400-147246000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
29	chr1:147245400-147246000	Enhancers	Fetal Heart	heart
30	chr1:147245400-147249400	Weak transcription	Psoas Muscle	Psoas
31	chr1:147245600-147245800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr1:147245600-147245800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr1:147245600-147245800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr1:147245600-147245800	Flanking Active TSS	Left Ventricle	heart
35	chr1:147245600-147246000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:147245600-147246200	Enhancers	Right Atrium	heart

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