Variant report

Variant	rs2923951
Chromosome Location	chr11:4043196-4043197
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4043182..4045170-chr11:4050934..4052579,2	K562	blood:
2	chr11:4040603..4045299-chr11:4047436..4050461,5	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10742194	0.83[YRI][hapmap]
rs10742229	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10767827	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs11030814	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11602757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1442725	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1465952	0.88[CEU][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2060822	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2289570	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2412341	0.82[CHB][hapmap]
rs2898950	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920137	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920140	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920141	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920142	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2923947	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2923952	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2923954	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959060	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959064	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959071	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959072	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959076	1.00[JPT][hapmap]
rs35695744	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794051	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794052	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4243965	1.00[JPT][hapmap]
rs4910595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910881	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6578440	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs7109811	0.80[AMR][1000 genomes]
rs7924858	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7927493	0.87[EUR][1000 genomes]
rs7930739	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7938946	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940635	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7945918	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs894455	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs894457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9988893	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[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	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4017600-4043400	Weak transcription	Primary B cells from cord blood	blood
2	chr11:4020800-4045000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:4021000-4043600	Weak transcription	Thymus	Thymus
4	chr11:4021000-4044200	Weak transcription	Fetal Thymus	thymus
5	chr11:4021000-4044400	Weak transcription	Dnd41	blood
6	chr11:4028800-4043400	Weak transcription	Primary T cells from cord blood	blood
7	chr11:4030200-4044800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:4037200-4045000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:4038000-4044400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:4038000-4049400	Weak transcription	Spleen	Spleen
11	chr11:4038200-4044000	Weak transcription	GM12878-XiMat	blood
12	chr11:4038200-4048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:4038200-4057200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:4038200-4065200	Weak transcription	Left Ventricle	heart
15	chr11:4038400-4044000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:4038400-4045000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:4038400-4045000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:4038400-4045400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:4038400-4045400	Weak transcription	Psoas Muscle	Psoas
20	chr11:4038400-4065400	Weak transcription	Esophagus	oesophagus
21	chr11:4038600-4044000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:4038800-4044400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:4038800-4045000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:4038800-4045000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:4038800-4050000	Weak transcription	K562	blood
26	chr11:4039200-4043600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:4039200-4045000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:4039200-4056400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:4040200-4045000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:4040200-4045000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:4040200-4046800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:4040200-4049600	Weak transcription	A549	lung
33	chr11:4040400-4045600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:4040400-4046200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:4040800-4045000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:4041000-4046600	Weak transcription	NHEK	skin
37	chr11:4041200-4046000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:4041400-4046200	Weak transcription	NHDF-Ad	bronchial
39	chr11:4041600-4045400	Weak transcription	Fetal Stomach	stomach
40	chr11:4041600-4046000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:4041600-4046800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:4041800-4054600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:4042000-4045000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:4042000-4046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:4042000-4046000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:4042200-4043800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:4042200-4044000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:4042400-4044400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr11:4042400-4044800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:4042600-4043800	Weak transcription	Placenta	Placenta

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