Variant report

Variant	rs8064771
Chromosome Location	chr17:16921302-16921303
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16920777..16926602-chr17:16943525..16948995,8	MCF-7	breast:
2	chr17:16920975..16923605-chr17:16945817..16947937,2	K562	blood:
3	chr17:16919740..16922736-chr17:16924450..16926205,2	MCF-7	breast:
4	chr17:16920470..16922796-chr17:16981423..16984163,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133030	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11867934	0.82[ASN][1000 genomes]
rs12601193	0.92[JPT][hapmap]
rs12601453	1.00[JPT][hapmap]
rs12602196	1.00[JPT][hapmap]
rs12602675	0.83[JPT][hapmap]
rs16961396	0.92[JPT][hapmap]
rs2292528	0.92[JPT][hapmap]
rs3744126	0.92[JPT][hapmap]
rs3744135	0.92[JPT][hapmap]
rs3803762	0.92[JPT][hapmap]
rs4078534	1.00[JPT][hapmap]
rs41319048	0.92[JPT][hapmap]
rs4316813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4328504	0.88[ASN][1000 genomes]
rs4485421	0.86[AMR][1000 genomes]
rs4608391	0.93[ASN][1000 genomes]
rs56332804	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56912118	0.86[AMR][1000 genomes]
rs59100652	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6502557	0.83[JPT][hapmap]
rs73979025	0.86[AMR][1000 genomes]
rs73979028	0.86[AMR][1000 genomes]
rs73979045	0.86[AMR][1000 genomes]
rs8068857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs8069049	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs8069441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs9908728	0.85[ASN][1000 genomes]
rs9909107	0.85[ASN][1000 genomes]

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	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv907727	chr17:16892265-16938582	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv962271	chr17:16912264-16922846	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16906800-16923400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:16915000-16923600	Weak transcription	HSMMtube	muscle
3	chr17:16917400-16922000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr17:16917400-16923800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:16917400-16926200	Enhancers	Stomach Mucosa	stomach
6	chr17:16918000-16922000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr17:16918000-16922000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:16918000-16926200	Enhancers	Placenta	Placenta
9	chr17:16918200-16922000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:16918400-16922000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr17:16918400-16922000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:16918600-16921400	Weak transcription	HUVEC	blood vessel
13	chr17:16918600-16921800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr17:16918600-16921800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr17:16918600-16924200	Weak transcription	Osteobl	bone
16	chr17:16918800-16923200	Weak transcription	HSMM	muscle
17	chr17:16918800-16924200	Enhancers	Hela-S3	cervix
18	chr17:16918800-16924200	Weak transcription	K562	blood
19	chr17:16918800-16930800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr17:16919000-16921400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:16919000-16921600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr17:16919000-16922800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr17:16919000-16924200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:16919200-16923600	Weak transcription	Brain Anterior Caudate	brain
25	chr17:16919200-16924200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr17:16919200-16924200	Weak transcription	Small Intestine	intestine
27	chr17:16919600-16922000	Enhancers	Dnd41	blood
28	chr17:16919800-16926200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:16920200-16921400	Weak transcription	Primary B cells from cord blood	blood
30	chr17:16920200-16921800	Weak transcription	A549	lung
31	chr17:16920200-16922200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:16920200-16922600	Enhancers	Gastric	stomach
33	chr17:16920200-16923600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr17:16920200-16926200	Enhancers	Pancreas	Pancrea
35	chr17:16920400-16922200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:16920400-16923800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:16920600-16921600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr17:16921000-16921800	Enhancers	Primary B cells from peripheral blood	blood
39	chr17:16921000-16922000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:16921000-16923800	Enhancers	Esophagus	oesophagus
41	chr17:16921000-16923800	Enhancers	NHEK	skin
42	chr17:16921000-16924200	Enhancers	Lung	lung
43	chr17:16921000-16924400	Enhancers	Fetal Intestine Small	intestine
44	chr17:16921000-16926200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr17:16921200-16921600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:16921200-16921800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr17:16921200-16921800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr17:16921200-16921800	Enhancers	GM12878-XiMat	blood
49	chr17:16921200-16922000	Enhancers	Primary hematopoietic stem cells	blood
50	chr17:16921200-16922000	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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