Variant report

Variant	rs10947415
Chromosome Location	chr6:33591784-33591785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:33589679..33592438-chr6:33605298..33608151,2	MCF-7	breast:
2	chr6:33591444..33593471-chr6:33595633..33598243,2	MCF-7	breast:
3	chr17:56736454..56738602-chr6:33589465..33592275,2	MCF-7	breast:
4	chr6:33238566..33241234-chr6:33590269..33592399,2	K562	blood:
5	chr6:33586212..33588848-chr6:33589323..33592935,3	K562	blood:
6	chr6:33590320..33593181-chr6:33667665..33670096,2	MCF-7	breast:
7	chr6:33561576..33563352-chr6:33589353..33591952,2	K562	blood:
8	chr6:33587647..33590168-chr6:33590912..33595599,6	MCF-7	breast:
9	chr6:33551460..33554975-chr6:33588078..33592105,4	K562	blood:
10	chr6:33589305..33592124-chr6:33949466..33952412,2	MCF-7	breast:
11	chr6:33587667..33592228-chr6:33677016..33679936,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000096433	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000204188	Chromatin interaction
ENSG00000137288	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10947418	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10947426	0.85[AMR][1000 genomes]
rs10947432	0.84[CEU][hapmap]
rs11755257	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757379	0.86[AFR][1000 genomes]
rs11757612	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11758330	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153870	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12195707	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs12200154	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203688	0.84[CEU][hapmap]
rs12205667	0.82[EUR][1000 genomes]
rs12206173	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12207576	0.81[EUR][1000 genomes]
rs12660617	1.00[ASN][1000 genomes]
rs13195024	0.88[AMR][1000 genomes]
rs13195171	0.86[AFR][1000 genomes]
rs13204162	0.84[CEU][hapmap]
rs13207407	0.82[EUR][1000 genomes]
rs13214874	0.84[CEU][hapmap]
rs13219209	0.83[AMR][1000 genomes]
rs13220421	0.81[EUR][1000 genomes]
rs2227925	0.86[AFR][1000 genomes]
rs2281831	0.92[CEU][hapmap]
rs2281919	0.84[CEU][hapmap]
rs34376580	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34517899	0.85[AMR][1000 genomes]
rs35088242	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35329444	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3818532	0.84[CEU][hapmap]
rs71565393	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9469554	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
3	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr6:33590000-33592000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
2	chr6:33590200-33591800	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr6:33590200-33591800	Enhancers	Placenta	Placenta
4	chr6:33590200-33592600	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr6:33590200-33592600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr6:33590200-33592600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr6:33590200-33593000	Enhancers	Fetal Lung	lung
8	chr6:33590200-33600600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:33590400-33591800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:33590400-33592000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr6:33590400-33592000	Enhancers	Left Ventricle	heart
12	chr6:33590400-33592400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:33590400-33593000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:33590400-33600200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:33590400-33600400	Weak transcription	Psoas Muscle	Psoas
16	chr6:33590600-33591800	Enhancers	Primary B cells from cord blood	blood
17	chr6:33590600-33591800	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:33590600-33592000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:33590600-33592000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:33590600-33592200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:33590600-33592600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:33590600-33592600	Enhancers	HUVEC	blood vessel
23	chr6:33590600-33593200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:33590800-33591800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:33590800-33591800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:33590800-33592000	Active TSS	Rectal Smooth Muscle	rectum
27	chr6:33590800-33592200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:33590800-33592600	Enhancers	Pancreas	Pancrea
29	chr6:33590800-33595400	Weak transcription	HSMMtube	muscle
30	chr6:33591000-33591800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:33591000-33592000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:33591000-33592000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:33591000-33592000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
34	chr6:33591000-33592200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:33591000-33592200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:33591000-33592200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:33591000-33592200	Enhancers	A549	lung
38	chr6:33591000-33592400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
39	chr6:33591000-33592400	Strong transcription	K562	blood
40	chr6:33591000-33592600	Genic enhancers	Dnd41	blood
41	chr6:33591000-33595000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr6:33591000-33595200	Weak transcription	HSMM	muscle
43	chr6:33591000-33595400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:33591000-33595600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:33591000-33595600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:33591000-33599000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:33591000-33600000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr6:33591000-33600200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:33591000-33600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:33591000-33600600	Weak transcription	Placenta Amnion	Placenta Amnion

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