Variant report

Variant	rs7950390
Chromosome Location	chr11:4631352-4631353
allele	G/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	POLR2A	chr11:4631326-4631353	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
TRIM68	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1000071	1.00[GIH][hapmap]
rs10500606	1.00[CEU][hapmap]
rs10768113	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10768130	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11033009	0.90[YRI][hapmap];0.88[AFR][1000 genomes]
rs11033015	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11033044	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11033047	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11033082	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1122778	1.00[GIH][hapmap]
rs16917882	0.83[EUR][1000 genomes]
rs17221921	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs2231963	0.86[YRI][hapmap]
rs2231970	0.82[YRI][hapmap]
rs2231978	1.00[CEU][hapmap]
rs3844036	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3861787	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3861788	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3861789	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4622249	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4910512	0.86[YRI][hapmap]
rs4910650	1.00[CEU][hapmap]
rs4910652	1.00[CEU][hapmap]
rs56113312	0.93[EUR][1000 genomes]
rs61218021	0.83[EUR][1000 genomes]
rs61997187	0.83[EUR][1000 genomes]
rs61997192	0.83[EUR][1000 genomes]
rs62622512	0.83[EUR][1000 genomes]
rs6578501	0.82[ASW][hapmap]
rs7108599	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap]
rs7113426	0.94[ASW][hapmap];0.98[LWK][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes]
rs7116002	0.82[CEU][hapmap]
rs74052453	0.83[EUR][1000 genomes]
rs74052458	0.88[EUR][1000 genomes]
rs74052459	0.88[EUR][1000 genomes]
rs74052461	0.88[EUR][1000 genomes]
rs74052462	0.88[EUR][1000 genomes]
rs74052463	0.88[EUR][1000 genomes]
rs74052479	0.81[EUR][1000 genomes]
rs7928788	1.00[CEU][hapmap]
rs7943486	0.82[YRI][hapmap]
rs7951206	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs986537	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv1052736	chr11:4519302-4635855	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv540921	chr11:4519302-4635855	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv832055	chr11:4550894-4736340	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv870335	chr11:4568743-4654458	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1054705	chr11:4582150-4687238	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	nsv896914	chr11:4587940-4631352	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv553173	chr11:4587940-4689742	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1054801	chr11:4590126-4689520	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv540923	chr11:4590126-4689520	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv553174	chr11:4592718-4682376	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1041836	chr11:4594628-4685732	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv540924	chr11:4594628-4685732	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1047741	chr11:4598125-4689520	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv540925	chr11:4598125-4689520	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv540926	chr11:4621196-4639254	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv540927	chr11:4628274-4639254	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv540928	chr11:4628274-4647615	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv540929	chr11:4628274-4669343	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4629800-4631400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:4629800-4631400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:4629800-4631400	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr11:4629800-4631600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:4630000-4631400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:4630000-4631400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:4630000-4631400	Weak transcription	Primary T cells from cord blood	blood
8	chr11:4630000-4631400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:4630000-4631400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:4630000-4631400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:4630000-4631400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr11:4630000-4631400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:4630000-4631400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:4630000-4631400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:4630000-4631400	Weak transcription	Adipose Nuclei	Adipose
16	chr11:4630000-4631400	Weak transcription	Aorta	Aorta
17	chr11:4630000-4631400	Weak transcription	Liver	Liver
18	chr11:4630000-4631400	Weak transcription	Brain Angular Gyrus	brain
19	chr11:4630000-4631400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:4630000-4631400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:4630000-4631400	Weak transcription	Fetal Intestine Small	intestine
22	chr11:4630000-4631400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:4630000-4631400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:4630000-4631400	Weak transcription	NHDF-Ad	bronchial
25	chr11:4630000-4631400	Weak transcription	NHLF	lung
26	chr11:4630000-4631600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:4630000-4631600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:4630000-4631600	Weak transcription	Primary B cells from cord blood	blood
29	chr11:4630000-4631600	Weak transcription	Ovary	ovary
30	chr11:4630000-4631600	Weak transcription	Thymus	Thymus
31	chr11:4630000-4631600	Weak transcription	NHEK	skin
32	chr11:4630000-4631600	Weak transcription	Osteobl	bone
33	chr11:4630000-4633200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:4630200-4631400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:4630200-4631400	Weak transcription	Brain Hippocampus Middle	brain
36	chr11:4630200-4631400	Weak transcription	Dnd41	blood
37	chr11:4630200-4631600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:4630200-4631600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:4630200-4631600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:4630200-4631600	Weak transcription	HUVEC	blood vessel
41	chr11:4631000-4631400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr11:4631000-4631400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:4631000-4631400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:4631000-4631600	Enhancers	Left Ventricle	heart
45	chr11:4631000-4632000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr11:4631000-4632000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr11:4631200-4631400	Enhancers	Primary B cells from peripheral blood	blood
48	chr11:4631200-4631400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:4631200-4631600	Weak transcription	Lung	lung
50	chr11:4631200-4631800	Enhancers	Small Intestine	intestine

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