Variant report

Variant	rs8191543
Chromosome Location	chr8:11629810-11629811
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11629548..11632235-chr8:11633790..11635730,3	MCF-7	breast:
2	chr8:11625910..11627647-chr8:11629398..11631179,2	MCF-7	breast:
3	chr8:11628045..11631391-chr8:11641711..11643829,4	K562	blood:
4	chr8:11629053..11631703-chr8:11645453..11647397,2	K562	blood:
5	chr8:11629063..11631875-chr8:11664082..11667656,3	MCF-7	breast:
6	chr8:11628184..11630862-chr8:11705136..11707099,2	K562	blood:
7	chr8:11629021..11631913-chr8:11640649..11643733,4	K562	blood:

Variant related genes	Relation type
ENSG00000154328	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000164733	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10088181	1.00[EUR][1000 genomes]
rs10091294	1.00[EUR][1000 genomes]
rs10094355	1.00[EUR][1000 genomes]
rs10094630	1.00[EUR][1000 genomes]
rs10096015	1.00[EUR][1000 genomes]
rs10096526	1.00[EUR][1000 genomes]
rs10097076	1.00[EUR][1000 genomes]
rs10100742	1.00[EUR][1000 genomes]
rs10101788	1.00[EUR][1000 genomes]
rs10101900	1.00[EUR][1000 genomes]
rs10102714	1.00[EUR][1000 genomes]
rs10103483	1.00[EUR][1000 genomes]
rs10105409	1.00[EUR][1000 genomes]
rs10106250	1.00[EUR][1000 genomes]
rs10108287	1.00[EUR][1000 genomes]
rs10109678	1.00[EUR][1000 genomes]
rs10109971	1.00[EUR][1000 genomes]
rs10111542	1.00[EUR][1000 genomes]
rs10112464	1.00[EUR][1000 genomes]
rs10113255	1.00[EUR][1000 genomes]
rs10216815	1.00[EUR][1000 genomes]
rs2127130	1.00[EUR][1000 genomes]
rs2127131	1.00[EUR][1000 genomes]
rs2252818	1.00[EUR][1000 genomes]
rs2252906	1.00[EUR][1000 genomes]
rs2252908	1.00[EUR][1000 genomes]
rs2252914	1.00[EUR][1000 genomes]
rs2264307	1.00[EUR][1000 genomes]
rs2409812	1.00[EUR][1000 genomes]
rs28394863	1.00[EUR][1000 genomes]
rs28472428	1.00[EUR][1000 genomes]
rs28505660	1.00[EUR][1000 genomes]
rs28665608	1.00[EUR][1000 genomes]
rs4841582	1.00[EUR][1000 genomes]
rs5027656	1.00[EUR][1000 genomes]
rs55951800	1.00[EUR][1000 genomes]
rs57782848	1.00[EUR][1000 genomes]
rs58467083	1.00[EUR][1000 genomes]
rs59035560	1.00[EUR][1000 genomes]
rs60419043	1.00[EUR][1000 genomes]
rs61265429	1.00[EUR][1000 genomes]
rs73533953	1.00[EUR][1000 genomes]
rs73545766	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73545784	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73663183	1.00[EUR][1000 genomes]
rs73663184	1.00[EUR][1000 genomes]
rs73663185	1.00[EUR][1000 genomes]
rs73663187	1.00[EUR][1000 genomes]
rs73663190	1.00[EUR][1000 genomes]
rs73663191	1.00[EUR][1000 genomes]
rs73663201	1.00[EUR][1000 genomes]
rs7831152	1.00[EUR][1000 genomes]
rs7841968	1.00[EUR][1000 genomes]
rs8191510	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8191573	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8191669	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8191682	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS 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	17 gene(s)	inside rSNPs	diseases
13	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11628000-11640800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:11628400-11632200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:11628400-11634000	Weak transcription	Aorta	Aorta
4	chr8:11628400-11635800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:11628400-11637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:11628400-11640000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr8:11628400-11640600	Weak transcription	A549	lung
8	chr8:11628400-11640600	Weak transcription	NH-A	brain
9	chr8:11628400-11641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:11628400-11641200	Weak transcription	Psoas Muscle	Psoas
11	chr8:11628400-11641400	Weak transcription	Esophagus	oesophagus
12	chr8:11628400-11647200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:11628400-11653000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:11628400-11656800	Weak transcription	Small Intestine	intestine
15	chr8:11628600-11630000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:11628600-11630000	Weak transcription	Fetal Brain Female	brain
17	chr8:11628600-11630200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:11628600-11630200	Enhancers	Adipose Nuclei	Adipose
19	chr8:11628600-11630400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:11628600-11630600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:11628600-11630600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:11628600-11631600	Weak transcription	Liver	Liver
23	chr8:11628600-11632200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:11628600-11632400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:11628600-11634000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:11628600-11634000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:11628600-11634200	Weak transcription	Left Ventricle	heart
28	chr8:11628600-11635400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:11628600-11636800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:11628600-11637200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr8:11628600-11638000	Weak transcription	NHEK	skin
32	chr8:11628600-11638400	Weak transcription	NHLF	lung
33	chr8:11628600-11638800	Weak transcription	HMEC	breast
34	chr8:11628600-11640600	Weak transcription	Osteobl	bone
35	chr8:11628600-11640800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:11628600-11641800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:11628600-11647200	Weak transcription	Fetal Heart	heart
38	chr8:11628800-11630000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:11628800-11630000	Weak transcription	Fetal Lung	lung
40	chr8:11628800-11630200	Enhancers	Primary B cells from cord blood	blood
41	chr8:11628800-11630400	Weak transcription	Brain Angular Gyrus	brain
42	chr8:11628800-11631800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:11628800-11632400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:11628800-11632400	Weak transcription	Fetal Intestine Small	intestine
45	chr8:11628800-11635200	Weak transcription	K562	blood
46	chr8:11628800-11638200	Weak transcription	NHDF-Ad	bronchial
47	chr8:11628800-11639800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:11628800-11640200	Weak transcription	Pancreas	Pancrea
49	chr8:11628800-11640400	Weak transcription	HSMMtube	muscle
50	chr8:11628800-11640600	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links