Variant report

Variant	rs62395823
Chromosome Location	chr6:31736065-31736066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:31734904-31737154	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31730833..31734412-chr6:31734807..31737911,5	MCF-7	breast:
2	chr6:31669494..31671005-chr6:31735611..31737690,2	MCF-7	breast:
3	chr6:31717928..31719785-chr6:31735295..31738183,2	MCF-7	breast:
4	chr6:31735011..31745595-chr6:31798203..31806127,22	MCF-7	breast:
5	chr6:31734752..31736298-chr6:31828518..31831343,2	K562	blood:

No data

Variant related genes	Relation type
VWA7	TF binding region
SAPCD1-AS1	TF binding region
ENSG00000235663	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000228727	Chromatin interaction
ENSG00000201754	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000201823	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1062309	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200969	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2257331	0.83[ASN][1000 genomes]
rs2844451	0.83[ASN][1000 genomes]
rs34431565	0.85[AMR][1000 genomes]
rs544167	0.83[ASN][1000 genomes]
rs62395789	1.00[ASN][1000 genomes]
rs62395791	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62395804	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62395814	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62395833	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62395847	1.00[ASN][1000 genomes]
rs62395848	1.00[ASN][1000 genomes]
rs62395849	1.00[ASN][1000 genomes]
rs62395855	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	esv2763547	chr6:31715882-31738478	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31708800-31737400	Weak transcription	Liver	Liver
2	chr6:31709000-31738200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr6:31709200-31737400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr6:31709600-31737400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:31716600-31744000	Weak transcription	GM12878-XiMat	blood
6	chr6:31725800-31737800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:31727600-31738400	Weak transcription	Primary T cells from cord blood	blood
8	chr6:31729000-31736800	Weak transcription	Primary B cells from cord blood	blood
9	chr6:31729200-31742800	Weak transcription	A549	lung
10	chr6:31729800-31737400	Weak transcription	Colonic Mucosa	Colon
11	chr6:31730600-31736200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:31730600-31736800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:31731400-31744400	Weak transcription	Left Ventricle	heart
14	chr6:31731600-31743400	Weak transcription	Lung	lung
15	chr6:31731800-31743600	Weak transcription	Right Ventricle	heart
16	chr6:31731800-31749600	Weak transcription	HUVEC	blood vessel
17	chr6:31732000-31739000	Weak transcription	NHEK	skin
18	chr6:31732000-31740000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:31732200-31740000	Weak transcription	Dnd41	blood
20	chr6:31732400-31736200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:31732400-31737800	Weak transcription	Hela-S3	cervix
22	chr6:31732600-31736200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:31732600-31736600	Weak transcription	K562	blood
24	chr6:31732600-31745000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:31732800-31744400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:31734400-31737400	Weak transcription	Esophagus	oesophagus
27	chr6:31734400-31737400	Weak transcription	Thymus	Thymus
28	chr6:31734400-31742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:31734400-31743400	Weak transcription	Right Atrium	heart
30	chr6:31734600-31736200	Weak transcription	Placenta	Placenta
31	chr6:31734600-31736400	Weak transcription	Fetal Stomach	stomach
32	chr6:31734600-31737400	Weak transcription	Pancreas	Pancrea
33	chr6:31734600-31737400	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr6:31734600-31737600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:31734600-31737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:31734600-31737600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:31734600-31737800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:31734600-31737800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr6:31734600-31739800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:31734600-31740800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:31734600-31740800	Weak transcription	Stomach Mucosa	stomach
42	chr6:31734600-31743600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr6:31734600-31744200	Weak transcription	Brain Anterior Caudate	brain
44	chr6:31734600-31744200	Weak transcription	NH-A	brain
45	chr6:31734600-31744600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:31734600-31744600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr6:31734600-31745200	Weak transcription	Brain Germinal Matrix	brain
48	chr6:31734600-31745400	Weak transcription	Fetal Brain Female	brain
49	chr6:31734600-31746600	Weak transcription	Brain Angular Gyrus	brain
50	chr6:31734800-31737200	Weak transcription	Fetal Muscle Leg	muscle

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