Variant report

Variant	rs7120239
Chromosome Location	chr11:9195380-9195381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10047438	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1039210	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10769993	0.87[ASN][1000 genomes]
rs10769994	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10769997	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769998	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769999	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840175	0.82[EUR][1000 genomes]
rs10840176	0.82[EUR][1000 genomes]
rs10840183	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10840185	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11042189	0.81[EUR][1000 genomes]
rs11042200	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042211	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11042213	0.83[AFR][1000 genomes]
rs12291375	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1874822	0.81[EUR][1000 genomes]
rs2133217	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2316087	0.81[EUR][1000 genomes]
rs2316088	0.81[ASN][1000 genomes]
rs6486199	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7109745	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7394878	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7395151	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7395846	0.83[EUR][1000 genomes]
rs7396705	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7925308	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7930192	0.85[ASN][1000 genomes]
rs7930507	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7931872	0.81[EUR][1000 genomes]
rs7947251	0.83[EUR][1000 genomes]
rs883550	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9155000-9203400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:9161200-9202400	Weak transcription	Small Intestine	intestine
3	chr11:9162000-9230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:9166000-9200600	Weak transcription	Colonic Mucosa	Colon
5	chr11:9169200-9198400	Weak transcription	Thymus	Thymus
6	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
7	chr11:9171800-9230200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:9172000-9230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:9172200-9197800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:9172200-9199600	Weak transcription	Gastric	stomach
11	chr11:9173000-9199400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:9173400-9199600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:9173600-9199600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:9174000-9198200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:9174000-9199400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:9174000-9225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:9178200-9195400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:9180000-9199600	Weak transcription	Aorta	Aorta
19	chr11:9182400-9225000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:9182400-9231800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:9182600-9198000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:9182600-9199000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:9182600-9199600	Weak transcription	Fetal Brain Male	brain
24	chr11:9183000-9195400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:9184000-9195400	Strong transcription	Fetal Stomach	stomach
26	chr11:9184000-9195600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:9184200-9208200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:9184200-9216800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:9186000-9195400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr11:9186000-9195400	Strong transcription	Adipose Nuclei	Adipose
31	chr11:9186800-9195400	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:9186800-9215800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr11:9187000-9195400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:9187200-9197800	Weak transcription	Brain Germinal Matrix	brain
35	chr11:9187600-9201800	Weak transcription	Pancreas	Pancrea
36	chr11:9190000-9198400	Weak transcription	Fetal Intestine Small	intestine
37	chr11:9190400-9195400	Strong transcription	HepG2	liver
38	chr11:9190400-9197800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:9191600-9197600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:9191600-9198200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:9191600-9198400	Weak transcription	Right Ventricle	heart
42	chr11:9191600-9199600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:9191800-9197200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:9191800-9199200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:9191800-9199400	Weak transcription	HMEC	breast
46	chr11:9192000-9197600	Weak transcription	Brain Angular Gyrus	brain
47	chr11:9192000-9198000	Weak transcription	HSMMtube	muscle
48	chr11:9192000-9198800	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:9192200-9196200	Weak transcription	Liver	Liver
50	chr11:9192200-9197000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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