Variant report

Variant	rs2120430
Chromosome Location	chr11:120261934-120261935
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120256139..120258853-chr11:120261413..120263735,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10502236	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10892573	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892579	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10892580	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892581	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217837	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11217847	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217853	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11217859	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217860	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217861	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11217865	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217868	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217869	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217871	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217872	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11217873	1.00[CEU][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217879	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217881	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217883	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217889	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217890	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600200	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600558	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600723	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602796	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606928	1.00[ASN][1000 genomes]
rs11607944	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820277	1.00[ASN][1000 genomes]
rs12361340	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361642	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362794	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12363974	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363975	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35912781	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4373935	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs4537767	1.00[CEU][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56329702	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57912596	0.96[EUR][1000 genomes]
rs61072783	1.00[ASN][1000 genomes]
rs61898267	1.00[ASN][1000 genomes]
rs61898282	1.00[ASN][1000 genomes]
rs61898283	1.00[ASN][1000 genomes]
rs61898284	1.00[ASN][1000 genomes]
rs61898287	1.00[ASN][1000 genomes]
rs61898768	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900794	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61900795	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67551874	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67617613	0.92[EUR][1000 genomes]
rs7108596	0.96[EUR][1000 genomes]
rs7110955	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7120040	0.88[EUR][1000 genomes]
rs7120174	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs73582205	1.00[ASN][1000 genomes]
rs73584117	1.00[ASN][1000 genomes]
rs73584140	1.00[ASN][1000 genomes]
rs73584846	1.00[ASN][1000 genomes]
rs73584849	1.00[ASN][1000 genomes]
rs73584865	1.00[ASN][1000 genomes]
rs747419	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs766894	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943147	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7948299	0.93[EUR][1000 genomes]
rs9625	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666435	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9666441	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1047982	chr11:120238962-120276373	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1050709	chr11:120246224-120276373	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120232000-120274800	Weak transcription	Ovary	ovary
2	chr11:120254600-120265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:120254600-120266400	Weak transcription	Gastric	stomach
4	chr11:120254600-120271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:120255400-120262200	Weak transcription	Right Ventricle	heart
6	chr11:120255800-120262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:120256200-120262000	Weak transcription	Left Ventricle	heart
8	chr11:120256200-120262200	Weak transcription	HSMMtube	muscle
9	chr11:120256400-120262000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:120256800-120262000	Weak transcription	Psoas Muscle	Psoas
11	chr11:120256800-120262000	Weak transcription	NH-A	brain
12	chr11:120257000-120262000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:120257200-120262200	Weak transcription	HSMM	muscle
14	chr11:120257800-120262200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:120257800-120262200	Weak transcription	NHDF-Ad	bronchial
16	chr11:120257800-120263200	Weak transcription	NHLF	lung
17	chr11:120258000-120262200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:120258000-120263000	Weak transcription	Osteobl	bone
19	chr11:120258000-120263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:120258200-120262000	Weak transcription	Brain Germinal Matrix	brain
21	chr11:120258200-120262800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:120258200-120262800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:120258400-120262000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:120260600-120262800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:120260600-120262800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:120260600-120262800	Enhancers	HUVEC	blood vessel
27	chr11:120260600-120263200	Enhancers	Liver	Liver
28	chr11:120260800-120262000	Flanking Active TSS	HepG2	liver
29	chr11:120260800-120262200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr11:120260800-120262600	Enhancers	A549	lung
31	chr11:120260800-120263000	Enhancers	Stomach Mucosa	stomach
32	chr11:120260800-120263600	Enhancers	Fetal Intestine Large	intestine
33	chr11:120260800-120263600	Enhancers	HMEC	breast
34	chr11:120260800-120263800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:120260800-120263800	Enhancers	Fetal Intestine Small	intestine
36	chr11:120261000-120262400	Enhancers	Fetal Brain Female	brain
37	chr11:120261000-120263200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr11:120261000-120263600	Enhancers	Adipose Nuclei	Adipose
39	chr11:120261000-120263600	Enhancers	Brain Hippocampus Middle	brain
40	chr11:120261000-120263600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:120261000-120263800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:120261000-120263800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:120261000-120263800	Enhancers	Brain Cingulate Gyrus	brain
44	chr11:120261000-120264000	Enhancers	Brain Anterior Caudate	brain
45	chr11:120261200-120262000	Enhancers	Rectal Smooth Muscle	rectum
46	chr11:120261200-120262200	Weak transcription	Fetal Lung	lung
47	chr11:120261200-120262400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:120261200-120263600	Enhancers	Brain Angular Gyrus	brain
49	chr11:120261200-120263600	Enhancers	Colon Smooth Muscle	Colon
50	chr11:120261200-120263800	Enhancers	Brain Substantia Nigra	brain

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