Variant report

Variant	rs11030814
Chromosome Location	chr11:4093233-4093234
allele	A/G
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	CTCF	chr11:4093013-4094523	SK-N-SH	brain:	n/a	chr11:4094108-4094118 chr11:4094100-4094121 chr11:4093512-4093522 chr11:4094105-4094123 chr11:4094106-4094122
2	CTCF	chr11:4093208-4094578	A549	lung:	n/a	chr11:4094108-4094118 chr11:4094100-4094121 chr11:4093512-4093522 chr11:4094105-4094123 chr11:4094106-4094122
3	RAD21	chr11:4092850-4094572	SK-N-SH	brain:	n/a	chr11:4094471-4094480 chr11:4094103-4094122
4	SMC3	chr11:4092838-4094604	SK-N-SH	brain:	n/a	chr11:4094107-4094121 chr11:4094472-4094480

No.	Distal block	Cell Line	Cell type
1	chr11:3845685..3846544-chr11:4093181..4094168,3	MCF-7	breast:
2	chr11:4082609..4084818-chr11:4091785..4094735,2	K562	blood:
3	chr11:4088238..4090623-chr11:4092934..4095144,2	K562	blood:
4	chr11:3846755..3850440-chr11:4090727..4095329,4	K562	blood:
5	chr11:3869715..3872142-chr11:4092471..4094977,3	K562	blood:

Variant related genes	Relation type
STIM1	TF binding region
ENSG00000148985	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10742194	0.94[YRI][hapmap]
rs10742229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10767827	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11602757	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1442725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465952	1.00[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1662163	0.87[CEU][hapmap]
rs1735053	0.87[CEU][hapmap]
rs2060822	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2289570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412341	0.87[CEU][hapmap];0.86[CHB][hapmap]
rs2860454	0.85[YRI][hapmap]
rs2898950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920137	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920140	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2923947	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2923951	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]
rs2923952	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2923954	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2959060	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959061	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959064	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2959069	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959073	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2959076	0.85[CHB][hapmap]
rs35695744	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3794051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794052	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910595	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910874	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6578440	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs7109811	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs7924858	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926908	0.81[EUR][1000 genomes]
rs7927493	0.88[EUR][1000 genomes]
rs7930739	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938946	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7940635	0.84[EUR][1000 genomes]
rs7945918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894457	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9735835	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9988893	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4066200-4104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:4066400-4107800	Weak transcription	Small Intestine	intestine
3	chr11:4070800-4108600	Weak transcription	HSMM	muscle
4	chr11:4076200-4103000	Weak transcription	Fetal Intestine Large	intestine
5	chr11:4079000-4112600	Weak transcription	Fetal Brain Female	brain
6	chr11:4081000-4101800	Weak transcription	Lung	lung
7	chr11:4081000-4104600	Weak transcription	Colonic Mucosa	Colon
8	chr11:4081200-4095400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:4081400-4095600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:4081800-4095200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:4081800-4095600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:4082000-4093400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:4082600-4093400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:4082600-4094800	Weak transcription	Spleen	Spleen
15	chr11:4082600-4107400	Weak transcription	Stomach Mucosa	stomach
16	chr11:4082800-4093600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:4082800-4103400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:4083000-4094200	Weak transcription	K562	blood
19	chr11:4083000-4095000	Weak transcription	HMEC	breast
20	chr11:4083200-4102200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:4084200-4095400	Weak transcription	NHEK	skin
22	chr11:4085000-4093400	Strong transcription	Thymus	Thymus
23	chr11:4086200-4102600	Weak transcription	Pancreas	Pancrea
24	chr11:4086200-4115200	Weak transcription	NHDF-Ad	bronchial
25	chr11:4086400-4094800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:4087200-4102400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:4087600-4093400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:4087600-4102400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:4087600-4115000	Weak transcription	HSMMtube	muscle
30	chr11:4087800-4107800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:4088000-4101800	Weak transcription	Aorta	Aorta
32	chr11:4088600-4107800	Weak transcription	Right Ventricle	heart
33	chr11:4090200-4093600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:4090400-4093400	Strong transcription	Dnd41	blood
35	chr11:4090400-4095000	Weak transcription	Adipose Nuclei	Adipose
36	chr11:4090400-4102800	Weak transcription	Gastric	stomach
37	chr11:4090800-4093400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:4090800-4097000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr11:4090800-4097600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr11:4091000-4093600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:4091000-4095400	Weak transcription	Esophagus	oesophagus
42	chr11:4091200-4093600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:4091200-4097800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:4091400-4093400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:4091400-4095400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:4091600-4093400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:4091600-4093400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:4091600-4093600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:4091600-4093800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:4091600-4096800	Strong transcription	Primary B cells from cord blood	blood

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