Variant report

Variant	rs9461723
Chromosome Location	chr6:31741341-31741342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr6:31740489-31741359	K562	blood:	n/a	n/a
2	YY1	chr6:31741019-31741375	K562	blood:	n/a	n/a
3	JUN	chr6:31740587-31741433	K562	blood:	n/a	chr6:31741268-31741277
4	POLR2A	chr6:31740561-31741725	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31706404..31710413-chr6:31739544..31742193,3	MCF-7	breast:
2	chr6:31710678..31714958-chr6:31739473..31744061,4	MCF-7	breast:
3	chr6:31737226..31750413-chr6:31786206..31805473,50	MCF-7	breast:
4	chr6:31701475..31705916-chr6:31741171..31744372,4	MCF-7	breast:
5	chr6:31741163..31742824-chr6:31743275..31745395,3	MCF-7	breast:
6	chr6:31740985..31743056-chr6:31795621..31797863,3	MCF-7	breast:
7	chr6:31668602..31672513-chr6:31741310..31744822,4	MCF-7	breast:
8	chr6:31739355..31742514-chr6:31742775..31744985,3	MCF-7	breast:
9	chr6:31741149..31744902-chr6:31760858..31763694,5	MCF-7	breast:
10	chr6:31740931..31743197-chr6:31865687..31868469,2	MCF-7	breast:
11	chr6:31735011..31745595-chr6:31798203..31806127,22	MCF-7	breast:

No data

Variant related genes	Relation type
VWA7	TF binding region
ENSG00000201754	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000255152	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000266776	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000204396	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10947225	1.00[AFR][1000 genomes]
rs17201459	1.00[AMR][1000 genomes]
rs28445017	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56194675	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58368425	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73728948	1.00[AMR][1000 genomes]
rs73728988	1.00[AFR][1000 genomes]
rs73728991	1.00[AFR][1000 genomes]
rs73729004	1.00[AMR][1000 genomes]
rs73729005	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9282875	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332712	1.00[AFR][1000 genomes]
rs9461730	1.00[AFR][1000 genomes]
rs9469030	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469035	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469037	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469078	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9501148	1.00[AMR][1000 genomes]
rs9501150	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9501151	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9501153	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS 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	326 gene(s)	inside rSNPs	diseases
11	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
13	nsv884426	chr6:31728102-31800868	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
14	nsv884427	chr6:31728102-31802465	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers 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 target site	152 gene(s)	inside rSNPs	diseases
15	nsv884428	chr6:31728102-31870326	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
16	nsv884429	chr6:31730356-31837066	Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
17	nsv884430	chr6:31731881-31800631	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
18	nsv884431	chr6:31732679-31761386	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
19	nsv601943	chr6:31733544-31763862	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	55 gene(s)	inside rSNPs	diseases
20	nsv884432	chr6:31734117-31777687	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
21	nsv884433	chr6:31737701-31777687	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
22	nsv884434	chr6:31739881-31748110	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
23	nsv884435	chr6:31739881-31750919	Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
24	nsv884436	chr6:31739881-31754096	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	diseases
25	nsv884437	chr6:31739881-31777687	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31716600-31744000	Weak transcription	GM12878-XiMat	blood
2	chr6:31729200-31742800	Weak transcription	A549	lung
3	chr6:31731400-31744400	Weak transcription	Left Ventricle	heart
4	chr6:31731600-31743400	Weak transcription	Lung	lung
5	chr6:31731800-31743600	Weak transcription	Right Ventricle	heart
6	chr6:31731800-31749600	Weak transcription	HUVEC	blood vessel
7	chr6:31732600-31745000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:31732800-31744400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:31734400-31742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:31734400-31743400	Weak transcription	Right Atrium	heart
11	chr6:31734600-31743600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:31734600-31744200	Weak transcription	Brain Anterior Caudate	brain
13	chr6:31734600-31744200	Weak transcription	NH-A	brain
14	chr6:31734600-31744600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:31734600-31744600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:31734600-31745200	Weak transcription	Brain Germinal Matrix	brain
17	chr6:31734600-31745400	Weak transcription	Fetal Brain Female	brain
18	chr6:31734600-31746600	Weak transcription	Brain Angular Gyrus	brain
19	chr6:31734800-31745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:31735400-31742800	Weak transcription	Fetal Intestine Large	intestine
21	chr6:31736800-31741600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:31737200-31741600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:31737200-31744200	Weak transcription	Fetal Stomach	stomach
24	chr6:31737400-31741800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr6:31737400-31744400	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:31737400-31744600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr6:31737800-31741400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:31737800-31741600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:31738000-31741800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:31738000-31742600	Weak transcription	Fetal Intestine Small	intestine
31	chr6:31738000-31742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:31738000-31742800	Weak transcription	Colonic Mucosa	Colon
33	chr6:31738000-31742800	Weak transcription	Gastric	stomach
34	chr6:31738000-31743400	Weak transcription	Pancreas	Pancrea
35	chr6:31738000-31744200	Weak transcription	Primary B cells from cord blood	blood
36	chr6:31738200-31741400	Enhancers	K562	blood
37	chr6:31738400-31741400	Enhancers	Primary T cells from cord blood	blood
38	chr6:31738800-31742200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:31738800-31745800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:31739000-31742200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:31739000-31743000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr6:31739400-31742800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:31739400-31742800	Weak transcription	NHEK	skin
44	chr6:31739800-31746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:31740000-31741400	Enhancers	Dnd41	blood
46	chr6:31740200-31741800	Enhancers	Thymus	Thymus
47	chr6:31740200-31744800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:31740400-31744200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:31740400-31744600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:31740600-31741400	Enhancers	Placenta	Placenta

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