Variant report

Variant	rs3802947
Chromosome Location	chr11:64376307-64376308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64375874..64378120-chr11:64381726..64383256,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10897519	0.92[ASW][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10897521	0.92[ASW][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11231824	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11231838	0.86[AFR][1000 genomes]
rs11231840	0.88[ASN][1000 genomes]
rs11231841	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11231842	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11231849	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11820322	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12222043	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12226055	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17146104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17146216	0.85[ASW][hapmap];0.86[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs2269730	1.00[YRI][hapmap]
rs2285340	0.82[CHB][hapmap];0.82[CHD][hapmap];0.91[MEX][hapmap]
rs3741399	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3850944	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs504195	0.82[MEX][hapmap]
rs55659641	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56105921	0.85[AFR][1000 genomes]
rs56317934	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57387921	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7929296	0.92[ASW][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7937990	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897692	chr11:64305452-64386526	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
8	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
9	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
10	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
11	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
12	nsv555197	chr11:64364291-64376307	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv897696	chr11:64365796-64412877	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64373000-64376800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:64373400-64377200	Weak transcription	Spleen	Spleen
3	chr11:64373400-64379000	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:64373600-64402200	Weak transcription	HSMMtube	muscle
5	chr11:64374200-64376400	Enhancers	Primary hematopoietic stem cells	blood
6	chr11:64374200-64376600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:64374400-64376400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:64374600-64376400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:64374600-64377200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr11:64375000-64376800	Enhancers	Fetal Brain Male	brain
11	chr11:64375200-64376800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:64375200-64377000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:64375600-64376400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:64375600-64376400	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:64375600-64376600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:64375600-64376600	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr11:64375600-64377200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr11:64375600-64379000	Weak transcription	Lung	lung
19	chr11:64375800-64376400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:64375800-64376400	Bivalent Enhancer	Fetal Intestine Small	intestine
21	chr11:64375800-64376600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:64375800-64376600	Bivalent Enhancer	Fetal Stomach	stomach
23	chr11:64375800-64376600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr11:64375800-64376800	Enhancers	Fetal Brain Female	brain
25	chr11:64375800-64379800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:64376000-64376400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:64376000-64376400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:64376000-64376400	Bivalent Enhancer	Fetal Lung	lung
29	chr11:64376000-64376400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr11:64376000-64376400	Bivalent Enhancer	NHDF-Ad	bronchial
31	chr11:64376000-64376600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:64376000-64376600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:64376000-64376600	Enhancers	Right Atrium	heart
34	chr11:64376000-64376600	Bivalent Enhancer	HepG2	liver
35	chr11:64376000-64379200	Enhancers	Primary T cells from cord blood	blood
36	chr11:64376000-64383200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr11:64376200-64376400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:64376200-64376400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr11:64376200-64376400	Enhancers	Brain Anterior Caudate	brain
40	chr11:64376200-64376400	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr11:64376200-64376400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr11:64376200-64376400	Bivalent Enhancer	Fetal Intestine Large	intestine
43	chr11:64376200-64376400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr11:64376200-64376400	Bivalent Enhancer	Stomach Mucosa	stomach
45	chr11:64376200-64376600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:64376200-64376600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:64376200-64376600	Enhancers	Aorta	Aorta
48	chr11:64376200-64376600	Enhancers	Brain Angular Gyrus	brain
49	chr11:64376200-64376600	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:64376200-64376600	Enhancers	Brain Substantia Nigra	brain

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