Variant report

Variant	rs2923958
Chromosome Location	chr11:4006651-4006652
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:4005996-4006735	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr11:4005977-4006664	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3873199..3875344-chr11:4005574..4008407,2	K562	blood:
2	chr11:3994046..3996108-chr11:4004247..4006936,2	K562	blood:
3	chr11:3873199..3875209-chr11:4005574..4007848,2	K562	blood:

Variant related genes	Relation type
STIM1	TF binding region
ENSG00000255141	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10734400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10742194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10742207	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10767775	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10835500	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11030584	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2860454	1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2923946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2923959	0.88[AFR][1000 genomes]
rs2959058	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959059	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4379839	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4910881	0.81[YRI][hapmap]
rs6578430	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs727152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7928763	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3973200-4008400	Weak transcription	Fetal Lung	lung
2	chr11:3984000-4010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:3986000-4008000	Weak transcription	HepG2	liver
4	chr11:3987000-4010400	Weak transcription	Fetal Intestine Small	intestine
5	chr11:3989400-4010600	Weak transcription	Spleen	Spleen
6	chr11:3989400-4031000	Weak transcription	Aorta	Aorta
7	chr11:3994400-4016600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:3998600-4008800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr11:4000600-4010800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:4001400-4011800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr11:4002200-4008600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr11:4002200-4008600	Weak transcription	Gastric	stomach
13	chr11:4002600-4007200	Enhancers	Thymus	Thymus
14	chr11:4002600-4009600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr11:4003000-4007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:4003000-4010600	Weak transcription	Esophagus	oesophagus
17	chr11:4003200-4016600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:4003600-4007600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr11:4003800-4007000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:4003800-4007200	Enhancers	Primary hematopoietic stem cells	blood
21	chr11:4003800-4007200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:4004400-4009400	Enhancers	Psoas Muscle	Psoas
23	chr11:4004400-4009600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:4004600-4010600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:4004800-4010000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:4005000-4006800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:4005000-4010200	Weak transcription	Dnd41	blood
28	chr11:4005400-4006800	Enhancers	Colon Smooth Muscle	Colon
29	chr11:4005400-4007000	Enhancers	Ovary	ovary
30	chr11:4005400-4011800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:4005600-4007000	Enhancers	K562	blood
32	chr11:4005600-4008000	Enhancers	Fetal Brain Male	brain
33	chr11:4005800-4007000	Enhancers	Primary B cells from peripheral blood	blood
34	chr11:4005800-4007000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:4005800-4007200	Enhancers	Fetal Stomach	stomach
36	chr11:4005800-4010800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr11:4006000-4006800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr11:4006000-4006800	Enhancers	Duodenum Mucosa	Duodenum
39	chr11:4006000-4006800	Enhancers	Right Ventricle	heart
40	chr11:4006000-4007000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:4006000-4007000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:4006000-4007000	Enhancers	Fetal Thymus	thymus
43	chr11:4006000-4007000	Enhancers	Left Ventricle	heart
44	chr11:4006000-4007600	Enhancers	Fetal Brain Female	brain
45	chr11:4006000-4007600	Enhancers	Stomach Smooth Muscle	stomach
46	chr11:4006000-4007800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr11:4006000-4007800	Enhancers	Rectal Smooth Muscle	rectum
48	chr11:4006000-4009000	Strong transcription	Primary B cells from cord blood	blood
49	chr11:4006000-4009400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:4006200-4006800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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