Variant report

Variant	rs7125495
Chromosome Location	chr11:75533898-75533899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75526011..75530054-chr11:75532879..75536884,5	K562	blood:
2	chr11:75527688..75530896-chr11:75531829..75535250,5	K562	blood:
3	chr11:75524137..75527756-chr11:75532015..75535706,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198382	Chromatin interaction
ENSG00000255507	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12279237	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs12279369	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12283986	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs12284314	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs1458834	1.00[CEU][hapmap]
rs17134361	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17134375	1.00[EUR][1000 genomes]
rs2371370	1.00[EUR][1000 genomes]
rs2371373	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs34113941	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3862806	1.00[EUR][1000 genomes]
rs55740367	1.00[EUR][1000 genomes]
rs56216135	1.00[EUR][1000 genomes]
rs56230849	1.00[EUR][1000 genomes]
rs56280826	1.00[EUR][1000 genomes]
rs57081953	1.00[EUR][1000 genomes]
rs58443332	1.00[EUR][1000 genomes]
rs58509556	1.00[EUR][1000 genomes]
rs60606258	1.00[EUR][1000 genomes]
rs7102067	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7102544	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs7105260	1.00[EUR][1000 genomes]
rs7106322	1.00[EUR][1000 genomes]
rs7107458	0.82[YRI][hapmap]
rs7115657	0.82[YRI][hapmap]
rs7115978	1.00[EUR][1000 genomes]
rs7118055	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7121639	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs7122276	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs7122386	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs7122695	1.00[EUR][1000 genomes]
rs7131141	1.00[EUR][1000 genomes]
rs73491729	1.00[EUR][1000 genomes]
rs73491733	1.00[EUR][1000 genomes]
rs73491734	1.00[EUR][1000 genomes]
rs73491737	1.00[EUR][1000 genomes]
rs73491741	1.00[EUR][1000 genomes]
rs73504544	1.00[EUR][1000 genomes]
rs7928366	1.00[EUR][1000 genomes]
rs7931944	0.82[YRI][hapmap]
rs7933028	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7934683	1.00[EUR][1000 genomes]
rs7934862	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs7934895	1.00[EUR][1000 genomes]
rs7937098	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs7939174	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7948380	1.00[EUR][1000 genomes]
rs7948526	1.00[EUR][1000 genomes]
rs7948641	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7949863	1.00[CEU][hapmap];1.00[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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75528000-75537800	Weak transcription	Aorta	Aorta
2	chr11:75528000-75538400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:75528200-75541000	Weak transcription	Esophagus	oesophagus
4	chr11:75528200-75549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:75528200-75553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:75528400-75537400	Weak transcription	HSMMtube	muscle
7	chr11:75528400-75541600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:75528400-75543000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:75528400-75550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:75528400-75561600	Weak transcription	HSMM	muscle
11	chr11:75528400-75561800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:75528600-75534000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:75528600-75534000	Weak transcription	Fetal Intestine Small	intestine
14	chr11:75528600-75534000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:75528600-75534200	Weak transcription	Primary T cells from cord blood	blood
16	chr11:75528600-75534200	Weak transcription	Fetal Intestine Large	intestine
17	chr11:75528600-75534600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:75528600-75534600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:75528600-75534600	Weak transcription	Liver	Liver
20	chr11:75528600-75535200	Weak transcription	NHDF-Ad	bronchial
21	chr11:75528600-75536200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:75528600-75536600	Weak transcription	Osteobl	bone
23	chr11:75528600-75537400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:75528600-75537400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:75528600-75537400	Weak transcription	NHLF	lung
26	chr11:75528600-75537600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:75528600-75537600	Weak transcription	Brain Angular Gyrus	brain
28	chr11:75528600-75537600	Weak transcription	Brain Substantia Nigra	brain
29	chr11:75528600-75537600	Weak transcription	Fetal Kidney	kidney
30	chr11:75528600-75537800	Weak transcription	Brain Anterior Caudate	brain
31	chr11:75528600-75538000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:75528600-75538000	Weak transcription	Psoas Muscle	Psoas
33	chr11:75528600-75540000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:75528600-75543800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:75528600-75561400	Weak transcription	Fetal Brain Female	brain
36	chr11:75528600-75561400	Weak transcription	Thymus	Thymus
37	chr11:75528600-75563600	Weak transcription	Dnd41	blood
38	chr11:75528800-75534400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:75528800-75534600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:75528800-75534800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr11:75528800-75535200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:75528800-75547200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:75529000-75537400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:75529200-75537600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:75529200-75544400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr11:75529200-75544400	Weak transcription	Fetal Brain Male	brain
47	chr11:75530200-75534000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:75530400-75534000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:75530400-75536600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:75530600-75534000	Weak transcription	Adipose Nuclei	Adipose

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