Variant report

Variant	rs62395804
Chromosome Location	chr6:31607952-31607953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:31607824-31608287	K562	blood:	n/a	n/a
2	POLR2A	chr6:31603910-31610854	K562	blood:	n/a	n/a
3	POLR2A	chr6:31607631-31608259	HepG2	liver:	n/a	n/a
4	CEBPB	chr6:31607668-31607985	HepG2	liver:	n/a	chr6:31607806-31607819 chr6:31607807-31607818
5	POLR2A	chr6:31605501-31608098	GM12891	blood:	n/a	n/a
6	POLR2A	chr6:31606735-31608439	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:31607860-31608119	GM12891	blood:	n/a	n/a
8	POLR2A	chr6:31592721-31608143	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr6:31605451-31608067	GM12892	blood:	n/a	n/a
10	POLR2A	chr6:31605436-31608155	GM12892	blood:	n/a	n/a
11	POLR2A	chr6:31596630-31608080	K562	blood:	n/a	n/a
12	POLR2A	chr6:31606472-31608013	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:31605462-31608127	GM12892	blood:	n/a	n/a
14	POLR2A	chr6:31605497-31608336	GM12891	blood:	n/a	n/a
15	POLR2A	chr6:31607815-31608193	MCF-7	breast:	n/a	n/a
16	POLR2A	chr6:31607913-31608086	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr6:31607628-31607976	IMR90	lung:	n/a	chr6:31607806-31607819 chr6:31607807-31607818
18	POLR2A	chr6:31607632-31608103	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr6:31605544-31608395	A549	lung:	n/a	n/a
20	POLR2A	chr6:31592751-31609100	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:31607907-31608110	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:31607874-31608064	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:31598901-31608327	HepG2	liver:	n/a	n/a
24	POLR2A	chr6:31606608-31608140	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr6:31603984-31608325	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr6:31607859-31608821	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:31514041..31516822-chr6:31607895..31609599,2	K562	blood:
2	chr6:31506529..31508833-chr6:31606767..31610616,4	K562	blood:

Variant related genes	Relation type
BAG6	TF binding region
ENSG00000198563	Chromatin interaction
ENSG00000254870	Chromatin interaction
ENSG00000204498	Chromatin interaction
ENSG00000213760	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1062309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200969	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34431565	0.85[AMR][1000 genomes]
rs62395789	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62395791	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62395814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62395823	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]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
10	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
11	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
12	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
13	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
14	nsv462871	chr6:31575276-31632134	Strong transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	133 gene(s)	inside rSNPs	diseases
15	nsv601942	chr6:31575276-31632134	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	133 gene(s)	inside rSNPs	diseases
16	nsv884419	chr6:31585000-31632651	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	138 gene(s)	inside rSNPs	diseases
17	nsv884420	chr6:31586827-31632651	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	138 gene(s)	inside rSNPs	diseases
18	nsv884421	chr6:31588151-31631907	Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	129 gene(s)	inside rSNPs	diseases
19	nsv884422	chr6:31592524-31631907	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
20	nsv884423	chr6:31593729-31615167	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
21	nsv884424	chr6:31593729-31632651	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31589800-31619400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:31590200-31617600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:31590200-31618800	Strong transcription	Primary B cells from peripheral blood	blood
4	chr6:31590400-31617400	Strong transcription	Rectal Smooth Muscle	rectum
5	chr6:31590400-31617600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:31590400-31618200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr6:31590400-31618600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:31590400-31618600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:31590400-31618600	Strong transcription	Fetal Intestine Small	intestine
10	chr6:31590600-31613200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:31590600-31617200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr6:31590600-31617400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:31590600-31617400	Strong transcription	Right Ventricle	heart
14	chr6:31590600-31617600	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:31590600-31617800	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr6:31590600-31617800	Strong transcription	Left Ventricle	heart
17	chr6:31590600-31617800	Strong transcription	Thymus	Thymus
18	chr6:31590600-31618000	Strong transcription	Fetal Lung	lung
19	chr6:31590600-31618600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr6:31590600-31618600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:31590600-31618800	Strong transcription	Fetal Stomach	stomach
22	chr6:31590800-31609200	Strong transcription	Brain Anterior Caudate	brain
23	chr6:31590800-31617400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr6:31590800-31617600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:31590800-31617800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:31590800-31617800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr6:31590800-31618400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:31590800-31618400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:31590800-31618600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:31590800-31618600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:31590800-31618600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:31590800-31618600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:31590800-31618800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:31590800-31619000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:31591000-31616800	Strong transcription	Fetal Brain Female	brain
36	chr6:31591000-31617000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:31591000-31617600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr6:31591000-31617600	Strong transcription	Brain Cingulate Gyrus	brain
39	chr6:31591000-31617800	Strong transcription	NHEK	skin
40	chr6:31591000-31618000	Strong transcription	Primary T cells from cord blood	blood
41	chr6:31591000-31618000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:31591000-31618000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:31591000-31618400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr6:31591000-31618600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:31591000-31618600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:31591000-31618600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:31591000-31618600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:31591000-31618600	Strong transcription	Fetal Intestine Large	intestine
49	chr6:31591000-31618600	Strong transcription	Fetal Thymus	thymus
50	chr6:31591200-31616400	Strong transcription	Spleen	Spleen

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