Variant report

Variant	rs7752364
Chromosome Location	chr6:167653943-167653944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:167653300-167654261	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:167653936-167654109	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:167653907-167653957	PrEC	prostate:	n/a
2	chr6:167653907-167653957	HL-60	blood:	n/a
3	chr6:167653907-167653957	Jurkat	blood:	n/a
4	chr6:167653907-167653957	ovcar-3	ovarian:	n/a
5	chr6:167653907-167653957	HEEpiC	esophagus:	n/a
6	chr6:167653907-167653957	AG04449	skin:	fetal
7	chr6:167653907-167653957	LNCaP	prostate:	n/a
8	chr6:167653907-167653957	GM19239	blood:	n/a
9	chr6:167653907-167653957	HAEpiC	amniotic membrane:	n/a
10	chr6:167653907-167653957	Hepatocyte	liver:	n/a
11	chr6:167653907-167653957	ECC-1	luminal epithelium:	n/a
12	chr6:167653907-167653957	SK-N-MC	brain:	n/a
13	chr6:167653907-167653957	BJ	skin:	n/a
14	chr6:167653907-167653957	HCPEpiC	choroid plexus:	n/a
15	chr6:167653907-167653957	GM12878	blood:	n/a
16	chr6:167653907-167653957	ProgFib	skin:	n/a
17	chr6:167653907-167653957	Hela-S3	cervix:	n/a
18	chr6:167653907-167653957	HCT-116	colon:	n/a
19	chr6:167653907-167653957	SAEC	small airway:	n/a
20	chr6:167653907-167653957	HCF	heart:	n/a
21	chr6:167653907-167653957	BE2_C	brain:	n/a
22	chr6:167653907-167653957	NH-A	brain:	n/a
23	chr6:167653907-167653957	CMK	blood:	n/a
24	chr6:167653907-167653957	H1-hESC	embryonic stem cell:	embryo
25	chr6:167653907-167653957	RPTEC	kidney:	n/a
26	chr6:167653907-167653957	SK-N-SH_RA	brain:	n/a
27	chr6:167653907-167653957	HRCEpiC	kidney:	n/a
28	chr6:167653907-167653957	HRPEpiC	eye:	n/a
29	chr6:167653907-167653957	AG09309	skin:	n/a
30	chr6:167653907-167653957	AG04450	lung:	fetal
31	chr6:167653907-167653957	T-47D	breast:	n/a
32	chr6:167653907-167653957	U87	brain:	n/a
33	chr6:167653907-167653957	MCF10A-Er-Src	breast:	n/a
34	chr6:167653907-167653957	NB4	blood:	n/a
35	chr6:167653907-167653957	HIPEpiC	eye:	n/a
36	chr6:167653907-167653957	AG10803	skin:	n/a
37	chr6:167653907-167653957	HRE	kidney:	n/a
38	chr6:167653907-167653957	NHDF-neo	bronchial:	n/a
39	chr6:167653907-167653957	SK-N-SH	brain:	n/a
40	chr6:167653907-167653957	AoSMC	blood vessel:	n/a
41	chr6:167653907-167653957	Caco-2	colon:	n/a
42	chr6:167653907-167653957	HepG2	liver:	n/a
43	chr6:167653907-167653957	A549	lung:	n/a
44	chr6:167653907-167653957	K562	blood:	n/a
45	chr6:167653907-167653957	HCM	heart:	n/a
46	chr6:167653907-167653957	HPAEpiC	pulmonary alveolar:	n/a
47	chr6:167653907-167653957	GM12892	blood:	n/a
48	chr6:167653907-167653957	SKMC	muscle:	n/a
49	chr6:167653907-167653957	HNPCEpiC	eye:	n/a
50	chr6:167653907-167653957	GM06990	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR31-1	chr6:167653688-167653968	XLOC_005921

No data

Variant related genes	Relation type
ENSG00000228648	TF binding region
ENSG00000228648	CpG island

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11575082	1.00[EUR][1000 genomes]
rs204299	1.00[EUR][1000 genomes]
rs2346158	1.00[EUR][1000 genomes]
rs41336844	1.00[EUR][1000 genomes]
rs41359447	1.00[EUR][1000 genomes]
rs41378350	1.00[EUR][1000 genomes]
rs41414848	1.00[EUR][1000 genomes]
rs41419544	1.00[EUR][1000 genomes]
rs41450452	1.00[EUR][1000 genomes]
rs41465451	1.00[EUR][1000 genomes]
rs4710216	1.00[EUR][1000 genomes]
rs5006825	1.00[EUR][1000 genomes]
rs6456162	1.00[EUR][1000 genomes]
rs6456164	1.00[EUR][1000 genomes]
rs6456166	1.00[EUR][1000 genomes]
rs6902566	1.00[EUR][1000 genomes]
rs73788603	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS 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	21 gene(s)	inside rSNPs	diseases
4	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1018193	chr6:167491589-167797294	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv538544	chr6:167491589-167797294	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv469673	chr6:167500376-167658532	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv482439	chr6:167500376-167658532	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	esv2758094	chr6:167501204-167845935	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv2759492	chr6:167501204-168176733	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv482873	chr6:167521620-167679133	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1032268	chr6:167569519-167838993	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv1026753	chr6:167570212-167832936	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv538545	chr6:167570212-167832936	Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv464141	chr6:167571911-167833557	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv605338	chr6:167571911-167833557	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv470873	chr6:167572542-167844264	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1019368	chr6:167594182-167838993	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	esv2757201	chr6:167600593-168176733	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv886944	chr6:167604257-167724650	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv1021482	chr6:167607584-167657449	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv1033801	chr6:167607584-167660663	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv1024830	chr6:167607584-167809953	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	esv16232	chr6:167609519-167781943	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv605340	chr6:167611757-167783664	Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	nsv1028537	chr6:167613263-167660663	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
28	nsv1034168	chr6:167613263-167678902	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
29	nsv1017088	chr6:167614471-167785109	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
30	nsv523035	chr6:167620431-167665326	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
31	esv34252	chr6:167621589-167812498	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
32	nsv464143	chr6:167624079-167778498	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
33	nsv605341	chr6:167624079-167778498	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
34	nsv1031882	chr6:167625330-167795901	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
35	nsv886945	chr6:167638337-167742278	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
36	nsv886946	chr6:167644277-168078883	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
37	nsv464144	chr6:167647872-167687892	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
38	nsv605342	chr6:167647872-167687892	ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167649000-167654600	Weak transcription	Fetal Brain Female	brain
2	chr6:167650000-167658400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:167650400-167657000	Enhancers	Fetal Intestine Large	intestine
4	chr6:167650600-167656800	Enhancers	Fetal Intestine Small	intestine
5	chr6:167650800-167655000	Genic enhancers	H1 Cell Line	embryonic stem cell
6	chr6:167651000-167655400	Enhancers	Fetal Muscle Leg	muscle
7	chr6:167651600-167656400	Enhancers	Duodenum Mucosa	Duodenum
8	chr6:167652000-167654600	Weak transcription	Fetal Brain Male	brain
9	chr6:167652000-167654600	Weak transcription	Ovary	ovary
10	chr6:167652000-167656400	Enhancers	Fetal Muscle Trunk	muscle
11	chr6:167652200-167657400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:167652600-167656600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:167652800-167654400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:167652800-167654400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:167652800-167654400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:167652800-167654800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:167652800-167656000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:167652800-167656000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:167652800-167656400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:167652800-167657600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:167652800-167657600	Weak transcription	Fetal Thymus	thymus
22	chr6:167652800-167657800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:167653000-167654400	Enhancers	HepG2	liver
24	chr6:167653000-167656000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:167653000-167656000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:167653200-167654800	Strong transcription	Right Atrium	heart
27	chr6:167653400-167655200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:167653400-167656600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:167653600-167654800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr6:167653800-167657600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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