Variant report

Variant	rs3219183
Chromosome Location	chr6:31516363-31516364
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr6:31515005-31516404	SH-SY5Y	brain:	n/a	chr6:31515596-31515605 chr6:31515356-31515366 chr6:31515782-31515789
2	POLR2A	chr6:31514171-31516364	HUVEC	blood vessel:	n/a	n/a
3	HCFC1	chr6:31514267-31517032	Hela-S3	cervix:	n/a	n/a
4	NR2F2	chr6:31514167-31516638	K562	blood:	n/a	n/a
5	RCOR1	chr6:31513595-31516462	IMR90	lung:	n/a	n/a
6	POLR2A	chr6:31515773-31516372	K562	blood:	n/a	n/a
7	JUN	chr6:31514998-31517000	K562	blood:	n/a	chr6:31515389-31515398
8	POLR2A	chr6:31515829-31516378	HL-60	blood:	n/a	n/a
9	POLR2A	chr6:31516146-31516477	HepG2	liver:	n/a	n/a
10	SMC3	chr6:31513846-31516397	SK-N-SH	brain:	n/a	n/a
11	MAX	chr6:31515773-31516638	K562	blood:	n/a	n/a
12	POLR2A	chr6:31515825-31516372	K562	blood:	n/a	n/a
13	HEY1	chr6:31515768-31516380	K562	blood:	n/a	n/a
14	POLR2A	chr6:31515726-31516439	PANC-1	pancreas:	n/a	n/a
15	MXI1	chr6:31513801-31517077	SK-N-SH	brain:	n/a	n/a
16	CUX1	chr6:31516220-31516471	K562	blood:	n/a	n/a
17	RAD21	chr6:31514028-31516508	SK-N-SH	brain:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31512487..31517874-chr6:31628889..31634381,12	K562	blood:
2	chr6:31511781..31517209-chr6:31545410..31553496,14	K562	blood:
3	chr6:31515338..31517420-chr6:31583462..31585517,2	MCF-7	breast:
4	chr6:31514907..31516609-chr6:31553664..31555666,2	MCF-7	breast:
5	chr6:31513724..31516419-chr6:31731123..31734011,2	K562	blood:
6	chr6:31465192..31467276-chr6:31514353..31517870,3	K562	blood:
7	chr6:31460255..31464524-chr6:31513189..31516444,5	K562	blood:
8	chr6:31512960..31516876-chr6:31549415..31551752,3	MCF-7	breast:
9	chr6:31515059..31516873-chr6:31633066..31634969,2	MCF-7	breast:
10	chr6:31512174..31516924-chr6:31632110..31634699,4	MCF-7	breast:
11	chr6:31512553..31516955-chr6:31618753..31622292,7	K562	blood:
12	chr6:31511829..31516829-chr6:31586761..31590434,8	MCF-7	breast:
13	chr6:31516324..31518806-chr6:31543079..31545738,3	MCF-7	breast:
14	chr6:31513113..31516557-chr6:31559255..31561759,3	K562	blood:
15	chr6:31513116..31516827-chr6:31558104..31561639,4	K562	blood:
16	chr6:31513053..31519210-chr6:31585987..31595406,29	K562	blood:
17	chr6:31513771..31519008-chr6:31582734..31585702,4	K562	blood:
18	chr6:31460672..31463218-chr6:31514855..31517423,2	MCF-7	breast:
19	chr6:31514420..31518271-chr6:31830053..31832008,3	K562	blood:
20	chr6:31507406..31516955-chr6:31615847..31623354,26	K562	blood:
21	chr6:31513245..31516542-chr6:31782394..31785632,3	MCF-7	breast:
22	chr6:31512646..31517552-chr6:31586243..31590655,20	K562	blood:
23	chr6:31513697..31516891-chr6:31590663..31594798,6	K562	blood:
24	chr6:31513816..31516540-chr6:31705988..31708603,3	K562	blood:
25	chr6:31513842..31516738-chr6:31801353..31804200,3	K562	blood:
26	chr6:31512487..31516692-chr6:31630820..31634965,11	K562	blood:
27	chr6:31514041..31516822-chr6:31607895..31609599,2	K562	blood:

No data

Variant related genes	Relation type
ATP6V1G2-DDX39B	TF binding region
ATP6V1G2	TF binding region
ENSG00000204435	Chromatin interaction
ENSG00000227507	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000204389	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000204469	Chromatin interaction
ENSG00000228727	Chromatin interaction
ENSG00000255152	Chromatin interaction
ENSG00000204390	Chromatin interaction
ENSG00000204475	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000204482	Chromatin interaction
ENSG00000204463	Chromatin interaction
ENSG00000204516	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000204472	Chromatin interaction
ENSG00000235663	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000200816	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000232810	Chromatin interaction
ENSG00000201207	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11751074	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11752951	0.92[EUR][1000 genomes]
rs11752976	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753901	0.90[AMR][1000 genomes]
rs13192469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13215091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071593	0.93[ASN][1000 genomes]
rs2509217	1.00[AMR][1000 genomes]
rs3219180	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3219182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3219184	0.93[ASN][1000 genomes]
rs34744948	1.00[AMR][1000 genomes]
rs35597084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57256697	0.83[ASN][1000 genomes]
rs66562149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67000433	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67104621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67872983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68092383	0.93[ASN][1000 genomes]
rs71563353	1.00[AMR][1000 genomes]
rs72847238	0.83[ASN][1000 genomes]
rs72847257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847262	0.84[ASN][1000 genomes]
rs72847263	0.81[ASN][1000 genomes]
rs72847264	0.84[ASN][1000 genomes]
rs7738430	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
2	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
3	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
4	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
5	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
6	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
7	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
8	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
9	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
10	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
11	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
12	nsv1018463	chr6:31337336-31525275	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
13	nsv538189	chr6:31337336-31525275	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
14	nsv432868	chr6:31338844-31721033	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
15	esv2757162	chr6:31353329-31542308	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
16	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
17	nsv432877	chr6:31412961-31528690	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
18	nsv830627	chr6:31496214-31659950	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
19	nsv470809	chr6:31496915-31544189	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
20	nsv884417	chr6:31515078-31525354	Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31514000-31516400	Active TSS	Fetal Kidney	kidney
2	chr6:31514000-31516600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:31515400-31516400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr6:31515600-31516400	Enhancers	Primary hematopoietic stem cells	blood
5	chr6:31515600-31516400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr6:31515600-31516400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr6:31515600-31516400	Enhancers	Esophagus	oesophagus
8	chr6:31515600-31516400	Flanking Active TSS	Fetal Heart	heart
9	chr6:31515600-31516400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr6:31515600-31516400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr6:31515600-31516400	Flanking Active TSS	HUVEC	blood vessel
12	chr6:31515600-31516600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:31515600-31516600	Enhancers	Primary B cells from peripheral blood	blood
14	chr6:31515600-31516600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr6:31515600-31516600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr6:31515600-31516600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:31515600-31516600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:31515600-31516600	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr6:31515600-31525400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:31515600-31525600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:31515800-31516400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:31515800-31516400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:31515800-31516400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:31515800-31516400	Enhancers	Primary T cells from cord blood	blood
25	chr6:31515800-31516400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:31515800-31516400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr6:31515800-31516400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:31515800-31516400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:31515800-31516400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:31515800-31516400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:31515800-31516400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:31515800-31516400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:31515800-31516400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr6:31515800-31516400	Enhancers	Aorta	Aorta
35	chr6:31515800-31516400	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr6:31515800-31516400	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr6:31515800-31516400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr6:31515800-31516400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr6:31515800-31516400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:31515800-31516400	Flanking Active TSS	Fetal Lung	lung
41	chr6:31515800-31516400	Flanking Active TSS	Pancreas	Pancrea
42	chr6:31515800-31516400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr6:31515800-31516400	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr6:31515800-31516400	Enhancers	Small Intestine	intestine
45	chr6:31515800-31516400	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr6:31515800-31516400	Flanking Active TSS	NH-A	brain
47	chr6:31515800-31516400	Flanking Active TSS	NHDF-Ad	bronchial
48	chr6:31515800-31516600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:31515800-31516600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr6:31515800-31516600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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