Variant report

Variant	rs191974492
Chromosome Location	chr6:31744238-31744239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr6:31744215-31745882	K562	blood:	n/a	n/a
2	CBX3	chr6:31744203-31746270	K562	blood:	n/a	n/a
3	JUN	chr6:31743526-31746220	K562	blood:	n/a	chr6:31745138-31745146 chr6:31745650-31745658
4	NR2F2	chr6:31743692-31746295	K562	blood:	n/a	n/a
5	ZBTB7A	chr6:31744155-31745836	K562	blood:	n/a	n/a
6	POLR2A	chr6:31743893-31745896	K562	blood:	n/a	n/a
7	POLR2A	chr6:31743241-31751112	K562	blood:	n/a	n/a
8	TBL1XR1	chr6:31744146-31745538	K562	blood:	n/a	n/a
9	POLR2A	chr6:31744121-31746554	K562	blood:	n/a	n/a
10	ELF1	chr6:31744080-31745262	K562	blood:	n/a	n/a
11	CHD2	chr6:31743828-31746134	K562	blood:	n/a	n/a
12	ELF1	chr6:31744188-31745379	GM12878	blood:	n/a	n/a
13	ELF1	chr6:31744236-31745317	K562	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31508578..31511041-chr6:31743489..31745514,2	K562	blood:
2	chr6:31737226..31750413-chr6:31786206..31805473,50	MCF-7	breast:
3	chr6:31697592..31699245-chr6:31742808..31745377,2	MCF-7	breast:
4	chr6:31742931..31744824-chr6:31926408..31928564,2	K562	blood:
5	chr6:31632664..31635327-chr6:31741807..31745187,4	MCF-7	breast:
6	chr6:31743287..31747076-chr6:31793437..31796925,5	MCF-7	breast:
7	chr6:31701475..31705916-chr6:31741171..31744372,4	MCF-7	breast:
8	chr6:31742555..31745004-chr6:31773789..31777145,5	MCF-7	breast:
9	chr6:31642643..31644341-chr6:31742570..31744549,2	MCF-7	breast:
10	chr6:31743326..31746438-chr6:31828635..31833007,4	K562	blood:
11	chr6:31696116..31699055-chr6:31743914..31747307,3	MCF-7	breast:
12	chr6:31743107..31747994-chr6:31781956..31785553,7	MCF-7	breast:
13	chr6:31668602..31672513-chr6:31741310..31744822,4	MCF-7	breast:
14	chr6:31508667..31511581-chr6:31742885..31745171,3	MCF-7	breast:
15	chr6:31507944..31511146-chr6:31743964..31746169,3	K562	blood:
16	chr6:31502088..31504001-chr6:31743213..31745224,2	MCF-7	breast:
17	chr6:31739355..31742514-chr6:31742775..31744985,3	MCF-7	breast:
18	chr6:31741149..31744902-chr6:31760858..31763694,5	MCF-7	breast:
19	chr6:31742944..31744994-chr6:31869511..31871431,2	K562	blood:
20	chr6:31735011..31745595-chr6:31798203..31806127,22	MCF-7	breast:
21	chr6:31743176..31746587-chr6:31939802..31942689,4	K562	blood:
22	chr6:31742934..31744615-chr6:31773250..31774889,2	MCF-7	breast:

No data

Variant related genes	Relation type
VWA7	TF binding region
ENSG00000198563	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000204392	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000204396	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000204389	Chromatin interaction
ENSG00000204344	Chromatin interaction
ENSG00000213722	Chromatin interaction
ENSG00000263020	Chromatin interaction
ENSG00000265236	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000201754	Chromatin interaction
ENSG00000204390	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000204351	Chromatin interaction
ENSG00000204356	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000204366	Chromatin interaction
ENSG00000204348	Chromatin interaction
ENSG00000204438	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000266776	Chromatin interaction
ENSG00000204435	Chromatin interaction
ENSG00000204427	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 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
26	nsv884438	chr6:31742590-31751832	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	32 gene(s)	inside rSNPs	diseases
27	nsv884439	chr6:31742590-31754096	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
28	nsv884440	chr6:31743882-31775984	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
29	esv3370799	chr6:31743973-31748071	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31731400-31744400	Weak transcription	Left Ventricle	heart
2	chr6:31731800-31749600	Weak transcription	HUVEC	blood vessel
3	chr6:31732600-31745000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:31732800-31744400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:31734600-31744600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:31734600-31744600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:31734600-31745200	Weak transcription	Brain Germinal Matrix	brain
8	chr6:31734600-31745400	Weak transcription	Fetal Brain Female	brain
9	chr6:31734600-31746600	Weak transcription	Brain Angular Gyrus	brain
10	chr6:31734800-31745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:31737400-31744400	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:31737400-31744600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:31738800-31745800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:31739800-31746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:31740200-31744800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:31740400-31744600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:31741000-31744400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:31741000-31744400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:31741000-31744400	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:31741000-31744800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr6:31741000-31745600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:31741200-31744400	Weak transcription	Fetal Thymus	thymus
23	chr6:31741200-31744800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:31741200-31744800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:31741200-31745800	Weak transcription	Brain Substantia Nigra	brain
26	chr6:31741400-31744400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:31741400-31744400	Weak transcription	Primary T cells from cord blood	blood
28	chr6:31741400-31745600	Weak transcription	Dnd41	blood
29	chr6:31741800-31744400	Enhancers	K562	blood
30	chr6:31741800-31745400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:31741800-31745600	Enhancers	Placenta	Placenta
32	chr6:31742400-31744600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:31742600-31746000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:31742800-31744400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:31742800-31744400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:31742800-31744400	Enhancers	Colonic Mucosa	Colon
37	chr6:31742800-31744400	Enhancers	Fetal Intestine Large	intestine
38	chr6:31742800-31744400	Enhancers	A549	lung
39	chr6:31742800-31744800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr6:31742800-31744800	Enhancers	NHEK	skin
41	chr6:31742800-31745200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr6:31742800-31745400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:31742800-31745400	Enhancers	Esophagus	oesophagus
44	chr6:31742800-31745800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:31742800-31746400	Enhancers	Liver	Liver
46	chr6:31742800-31746400	Flanking Active TSS	HepG2	liver
47	chr6:31743000-31744600	Enhancers	HMEC	breast
48	chr6:31743000-31745800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr6:31743200-31745600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr6:31743400-31744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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