Variant report

Variant	rs2017503
Chromosome Location	chr11:9881629-9881630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10840316	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs11042519	0.95[ASN][1000 genomes]
rs12099354	0.85[AFR][1000 genomes]
rs12362504	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs12800780	0.83[EUR][1000 genomes]
rs1546541	0.83[AFR][1000 genomes]
rs1546542	0.85[AFR][1000 genomes]
rs35749184	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910067	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910073	0.84[EUR][1000 genomes]
rs55813311	0.83[EUR][1000 genomes]
rs56138865	0.83[EUR][1000 genomes]
rs56981829	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60975667	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122293	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7929338	0.81[AFR][1000 genomes]
rs7942326	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950839	0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9300100	0.83[CEU][hapmap];0.84[EUR][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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv2762895	chr11:9849511-9954549	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9837600-9885800	Weak transcription	Hela-S3	cervix
2	chr11:9863800-9883800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:9868600-9883400	Weak transcription	HSMMtube	muscle
4	chr11:9876600-9882800	Enhancers	Osteobl	bone
5	chr11:9877600-9890200	Weak transcription	Brain Anterior Caudate	brain
6	chr11:9877800-9897000	Weak transcription	Psoas Muscle	Psoas
7	chr11:9878200-9883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:9878200-9883800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr11:9878200-9884000	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:9878200-9884600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:9878200-9892000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:9878200-9897000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:9878400-9883400	Weak transcription	HMEC	breast
14	chr11:9878400-9883400	Weak transcription	NHEK	skin
15	chr11:9878400-9891800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:9878400-9893200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:9878400-9916200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:9878600-9882000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:9878800-9881800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr11:9878800-9882200	Enhancers	NHLF	lung
21	chr11:9878800-9883600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:9878800-9952200	Weak transcription	Aorta	Aorta
23	chr11:9879000-9882000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:9879000-9882400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:9879200-9886000	Enhancers	NHDF-Ad	bronchial
26	chr11:9879400-9881800	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:9879400-9882400	Enhancers	Primary T cells from cord blood	blood
28	chr11:9879600-9881800	Enhancers	Fetal Lung	lung
29	chr11:9879600-9882000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:9879600-9882000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:9879600-9882000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:9879600-9882600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:9879800-9881800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr11:9879800-9881800	Enhancers	HSMM	muscle
35	chr11:9879800-9882000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:9879800-9882200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr11:9880000-9891600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:9880200-9913200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr11:9880600-9882200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:9880600-9882800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:9880600-9883600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:9880600-9883600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:9880600-9884400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:9880600-9884600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:9880600-9884800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:9880600-9884800	Weak transcription	Lung	lung
47	chr11:9880600-9892200	Weak transcription	Fetal Stomach	stomach
48	chr11:9880600-9893800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:9880600-9896400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr11:9880600-9897200	Weak transcription	Ovary	ovary

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