Variant report

Variant	rs7585396
Chromosome Location	chr2:173963225-173963226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173940613..173942424-chr2:173962648..173964553,2	MCF-7	breast:
2	chr2:173962395..173964311-chr2:173965753..173967285,2	K562	blood:
3	chr2:173962336..173964698-chr2:174110166..174112253,2	K562	blood:
4	chr2:173955322..173959016-chr2:173963058..173965750,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1345008	1.00[CHB][hapmap]
rs1439976	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17302439	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17302684	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17375006	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17761097	1.00[ASN][1000 genomes]
rs3769178	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3769186	1.00[ASN][1000 genomes]
rs3769188	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3769198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769202	1.00[ASN][1000 genomes]
rs3769209	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820834	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6726790	1.00[AFR][1000 genomes]
rs6741276	1.00[AFR][1000 genomes]
rs6741373	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7585076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173941600-173969600	Weak transcription	Spleen	Spleen
2	chr2:173942800-173964600	Weak transcription	HUVEC	blood vessel
3	chr2:173942800-173971400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:173943000-173971200	Weak transcription	HSMMtube	muscle
5	chr2:173943400-173974200	Weak transcription	Fetal Intestine Large	intestine
6	chr2:173945400-173991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:173952000-173973400	Weak transcription	Hela-S3	cervix
8	chr2:173952200-173971400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:173953000-173968000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:173953800-173991400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:173955400-173970200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:173955600-173964800	Weak transcription	Esophagus	oesophagus
13	chr2:173955600-173968600	Weak transcription	Placenta	Placenta
14	chr2:173955600-173971800	Weak transcription	Lung	lung
15	chr2:173955600-173972000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:173955600-173984000	Weak transcription	Gastric	stomach
17	chr2:173955800-173977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:173956000-173963600	Weak transcription	HSMM	muscle
19	chr2:173956200-173964400	Weak transcription	GM12878-XiMat	blood
20	chr2:173956200-173969000	Weak transcription	NH-A	brain
21	chr2:173956600-173971600	Weak transcription	Fetal Thymus	thymus
22	chr2:173957000-173963600	Weak transcription	Right Ventricle	heart
23	chr2:173957000-173964600	Weak transcription	Ovary	ovary
24	chr2:173957000-173964800	Weak transcription	Aorta	Aorta
25	chr2:173957000-173966800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:173957000-173974400	Weak transcription	Fetal Stomach	stomach
27	chr2:173957600-173972000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:173957800-173963600	Weak transcription	Left Ventricle	heart
29	chr2:173957800-173964800	Weak transcription	Psoas Muscle	Psoas
30	chr2:173957800-173973400	Weak transcription	Fetal Lung	lung
31	chr2:173957800-173983800	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:173958000-173964600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:173958000-173964600	Weak transcription	NHEK	skin
34	chr2:173958000-173983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:173958200-173964000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:173958200-173964200	Weak transcription	K562	blood
37	chr2:173958200-173964600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:173958200-173964600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:173958200-173965000	Weak transcription	HMEC	breast
40	chr2:173958200-173965600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:173958200-173966200	Weak transcription	NHDF-Ad	bronchial
42	chr2:173958200-173967000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:173958200-173973800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:173958200-173974000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:173958400-173966200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:173959800-173974200	Weak transcription	HepG2	liver
47	chr2:173960000-173963600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:173960200-173964600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:173960800-173964000	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:173960800-173965200	Strong transcription	Osteobl	bone

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