Variant report

Variant	rs11231842
Chromosome Location	chr11:64388262-64388263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64382022..64384034-chr11:64386590..64389266,3	K562	blood:
2	chr11:64386913..64388983-chr11:64393281..64396150,2	K562	blood:
3	chr11:64380600..64384034-chr11:64384345..64388589,5	K562	blood:
4	chr11:64387483..64389631-chr11:64392730..64394781,2	K562	blood:
5	chr11:64350444..64353414-chr11:64386038..64388659,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10897519	0.90[YRI][hapmap]
rs10897521	0.90[YRI][hapmap]
rs11231824	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11231840	0.89[ASN][1000 genomes]
rs11231841	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231849	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820322	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222043	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12226055	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146104	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146216	0.90[YRI][hapmap]
rs2269730	0.90[YRI][hapmap]
rs2285340	0.82[CHB][hapmap];0.82[CHD][hapmap];0.91[MEX][hapmap]
rs3741399	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];0.85[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802947	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]
rs3850944	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs504195	0.82[MEX][hapmap]
rs55659641	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56317934	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57387921	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7125253	0.82[MEX][hapmap]
rs7929296	0.90[YRI][hapmap]

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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64373600-64402200	Weak transcription	HSMMtube	muscle
2	chr11:64380000-64396800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:64380800-64390800	Weak transcription	Esophagus	oesophagus
4	chr11:64380800-64396600	Weak transcription	NHDF-Ad	bronchial
5	chr11:64384800-64389400	Weak transcription	HSMM	muscle
6	chr11:64385000-64389600	Weak transcription	Aorta	Aorta
7	chr11:64385200-64389600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr11:64385600-64389800	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr11:64385600-64389800	Enhancers	Pancreas	Pancrea
10	chr11:64385800-64389400	Genic enhancers	Fetal Stomach	stomach
11	chr11:64385800-64389800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:64386000-64390800	Enhancers	Fetal Thymus	thymus
13	chr11:64386200-64389000	Enhancers	Stomach Smooth Muscle	stomach
14	chr11:64386200-64389200	Enhancers	Spleen	Spleen
15	chr11:64386200-64389400	Enhancers	Fetal Lung	lung
16	chr11:64386400-64389200	Enhancers	Brain Anterior Caudate	brain
17	chr11:64386400-64389200	Enhancers	Fetal Muscle Leg	muscle
18	chr11:64386600-64388800	Enhancers	Right Atrium	heart
19	chr11:64386600-64389200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:64386600-64389800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr11:64386800-64388600	Enhancers	Fetal Brain Male	brain
22	chr11:64386800-64389000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:64386800-64389200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
24	chr11:64386800-64389200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:64387000-64388400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr11:64387000-64388400	Enhancers	Adipose Nuclei	Adipose
27	chr11:64387000-64388400	Genic enhancers	Fetal Brain Female	brain
28	chr11:64387000-64388600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:64387000-64388600	Enhancers	Fetal Heart	heart
30	chr11:64387000-64388800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:64387000-64388800	Enhancers	Brain Hippocampus Middle	brain
32	chr11:64387000-64389400	Enhancers	Rectal Smooth Muscle	rectum
33	chr11:64387000-64389800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:64387000-64390000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:64387200-64388600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:64387200-64388600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr11:64387200-64388800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:64387200-64389000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:64387200-64389200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:64387200-64389400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:64387200-64389400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:64387200-64389400	Enhancers	Placenta	Placenta
43	chr11:64387200-64389400	Enhancers	Ovary	ovary
44	chr11:64387200-64389600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:64387400-64388400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr11:64387400-64388600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr11:64387400-64388800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr11:64387400-64389000	Enhancers	Brain Angular Gyrus	brain
49	chr11:64387400-64389000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:64387400-64389200	Enhancers	Brain Substantia Nigra	brain

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