Variant report

Variant	rs7942026
Chromosome Location	chr11:8979781-8979782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8706753..8709894-chr11:8978976..8982993,5	K562	blood:
2	chr11:8702265..8704876-chr11:8979129..8981140,2	MCF-7	breast:
3	chr11:8710507..8713607-chr11:8978684..8982274,4	K562	blood:
4	chr11:8961456..8964030-chr11:8978805..8982021,3	K562	blood:

Variant related genes	Relation type
ENSG00000166441	Chromatin interaction
ENSG00000212607	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10734639	0.84[EUR][1000 genomes]
rs10743094	0.84[EUR][1000 genomes]
rs10769974	0.84[EUR][1000 genomes]
rs10769977	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10840151	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10840153	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10840154	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10840155	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10840156	0.85[AMR][1000 genomes]
rs11042128	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11042129	0.81[EUR][1000 genomes]
rs11042131	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1347016	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2043218	0.86[EUR][1000 genomes]
rs2116510	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2116511	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2163625	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2316523	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2316541	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2568069	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2568079	0.82[ASN][1000 genomes]
rs2568081	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2568086	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2568087	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2568088	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2653587	0.84[AFR][1000 genomes]
rs2653590	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2653594	0.83[AFR][1000 genomes]
rs2653597	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2653604	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2653611	0.82[ASN][1000 genomes]
rs2742486	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2742487	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2742488	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2742489	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2742491	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2742493	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2742494	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2742495	0.82[ASN][1000 genomes]
rs2742496	0.83[ASN][1000 genomes]
rs2742497	0.82[ASN][1000 genomes]
rs2742504	0.82[ASN][1000 genomes]
rs2742505	0.82[ASN][1000 genomes]
rs2742514	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2742519	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3751065	0.85[EUR][1000 genomes]
rs3751066	0.84[EUR][1000 genomes]
rs3751068	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3763911	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3763912	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7106152	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72852790	0.83[ASN][1000 genomes]
rs72853712	0.83[ASN][1000 genomes]
rs7932377	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7951226	0.82[AMR][1000 genomes];0.87[EUR][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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8944600-8985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:8954400-8984400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:8957000-8980800	Weak transcription	Fetal Heart	heart
4	chr11:8963200-8985000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:8965800-8984800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:8966400-8984000	Weak transcription	Fetal Brain Male	brain
7	chr11:8966800-8980800	Weak transcription	Small Intestine	intestine
8	chr11:8968200-8980800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:8968200-8985000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:8968600-8981000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:8968800-8980800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:8969400-8980800	Weak transcription	HSMMtube	muscle
13	chr11:8970200-8981000	Weak transcription	NHEK	skin
14	chr11:8970600-8984400	Weak transcription	Right Ventricle	heart
15	chr11:8970600-8985000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:8970800-8980800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:8970800-8984400	Weak transcription	A549	lung
18	chr11:8971000-8980600	Weak transcription	Psoas Muscle	Psoas
19	chr11:8971200-8984400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:8972200-8980600	Weak transcription	HMEC	breast
21	chr11:8972200-8980800	Weak transcription	NH-A	brain
22	chr11:8972200-8982800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:8972600-8980600	Weak transcription	Stomach Mucosa	stomach
24	chr11:8972800-8980800	Strong transcription	Fetal Stomach	stomach
25	chr11:8972800-8984200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:8973600-8985000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:8974800-8980600	Weak transcription	Brain Angular Gyrus	brain
28	chr11:8974800-8980600	Weak transcription	NHLF	lung
29	chr11:8974800-8980800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:8974800-8984000	Weak transcription	HepG2	liver
31	chr11:8974800-8984400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:8975000-8980600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:8975400-8980600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:8975400-8980800	Weak transcription	Brain Anterior Caudate	brain
35	chr11:8975800-8980600	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:8976000-8981000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:8976200-8984000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:8977400-8980600	Weak transcription	Ovary	ovary
39	chr11:8977400-8984800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:8977600-8980800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:8977600-8980800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:8977600-8980800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:8977600-8980800	Weak transcription	Right Atrium	heart
44	chr11:8977600-8982800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:8977600-8984200	Weak transcription	Brain Germinal Matrix	brain
46	chr11:8977600-8985000	Weak transcription	Esophagus	oesophagus
47	chr11:8977600-8985000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:8977800-8980600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:8977800-8980600	Weak transcription	Colonic Mucosa	Colon
50	chr11:8977800-8980600	Weak transcription	Fetal Lung	lung

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