Variant report

Variant	rs7566508
Chromosome Location	chr2:55179006-55179007
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55176432..55179496-chr2:55180651..55183314,3	MCF-7	breast:
2	chr2:55174500..55176023-chr2:55178242..55180647,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10460507	0.90[JPT][hapmap];0.91[YRI][hapmap];0.83[ASN][1000 genomes]
rs11898145	0.95[JPT][hapmap];0.92[YRI][hapmap];0.83[ASN][1000 genomes]
rs12619758	0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12623902	0.95[JPT][hapmap]
rs17346629	0.90[JPT][hapmap];0.84[YRI][hapmap]
rs3796008	0.80[JPT][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs4671999	0.84[ASN][1000 genomes]
rs4672001	0.84[ASN][1000 genomes]
rs6741304	0.90[JPT][hapmap];0.84[YRI][hapmap]
rs7565735	0.90[JPT][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7569471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7587804	0.93[ASN][1000 genomes]
rs7592371	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv582029	chr2:55159043-55204498	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55168800-55193400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55170400-55190400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:55173000-55193400	Weak transcription	Aorta	Aorta
4	chr2:55173200-55179800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:55173200-55187000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:55173200-55203400	Weak transcription	Gastric	stomach
7	chr2:55173400-55184600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:55173600-55181200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:55173600-55194000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:55173600-55195000	Weak transcription	Pancreas	Pancrea
11	chr2:55173800-55180000	Weak transcription	HSMMtube	muscle
12	chr2:55174800-55194000	Weak transcription	Brain Germinal Matrix	brain
13	chr2:55175400-55193200	Weak transcription	Fetal Brain Female	brain
14	chr2:55175600-55185600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:55175600-55185800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:55175600-55185800	Weak transcription	Brain Substantia Nigra	brain
17	chr2:55175600-55194600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:55175800-55181600	Weak transcription	Brain Anterior Caudate	brain
19	chr2:55175800-55184600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:55175800-55193800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:55176000-55182400	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:55176000-55182800	Weak transcription	Fetal Intestine Small	intestine
23	chr2:55176200-55180600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:55176400-55184600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:55176600-55179200	Enhancers	K562	blood
26	chr2:55176600-55180800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:55177600-55180000	Enhancers	A549	lung
28	chr2:55177800-55193800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:55178200-55193400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:55178400-55183000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:55178600-55179800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:55178600-55193400	Weak transcription	Spleen	Spleen
33	chr2:55178800-55180000	Enhancers	Osteobl	bone
34	chr2:55178800-55180600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:55178800-55180800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:55178800-55180800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:55178800-55180800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:55178800-55180800	Enhancers	HSMM	muscle
39	chr2:55178800-55183000	Enhancers	NHDF-Ad	bronchial
40	chr2:55178800-55183800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:55179000-55180600	Enhancers	NHLF	lung

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