Variant report

Variant	rs7580561
Chromosome Location	chr2:10533829-10533830
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10533744..10537127-chr2:10539374..10542865,3	K562	blood:
2	chr2:10531124..10533976-chr2:10546440..10548143,2	MCF-7	breast:
3	chr2:10531886..10534694-chr2:10548127..10550273,2	K562	blood:
4	chr2:10520062..10522966-chr2:10532348..10534201,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11676661	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.98[EUR][1000 genomes]
rs2270302	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs6741475	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7580442	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7594864	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.80[YRI][hapmap];0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs9917245	0.84[CHB][hapmap];0.81[JPT][hapmap]

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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873641	chr2:10480415-10544640	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10518000-10534800	Enhancers	Stomach Mucosa	stomach
2	chr2:10523000-10541000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:10523200-10534200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:10523400-10534000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:10523400-10534200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:10523400-10537800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:10523600-10539000	Weak transcription	Thymus	Thymus
8	chr2:10524800-10536200	Weak transcription	Primary T cells from cord blood	blood
9	chr2:10526800-10537400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:10527200-10542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:10527600-10536200	Weak transcription	Fetal Stomach	stomach
12	chr2:10530000-10540800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:10530200-10536000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:10530400-10537600	Weak transcription	Psoas Muscle	Psoas
15	chr2:10530400-10538800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:10530400-10540800	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:10530600-10539800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:10530600-10544400	Weak transcription	Brain Angular Gyrus	brain
19	chr2:10531000-10534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:10531000-10536000	Weak transcription	GM12878-XiMat	blood
21	chr2:10531000-10539800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:10531000-10540600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:10531000-10542400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:10531000-10544600	Weak transcription	NHLF	lung
25	chr2:10531200-10534800	Enhancers	Hela-S3	cervix
26	chr2:10531200-10539800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:10531200-10542400	Weak transcription	HSMMtube	muscle
28	chr2:10531200-10542400	Weak transcription	NH-A	brain
29	chr2:10531200-10544200	Weak transcription	Brain Substantia Nigra	brain
30	chr2:10531400-10539800	Weak transcription	HSMM	muscle
31	chr2:10531400-10541600	Weak transcription	Osteobl	bone
32	chr2:10531600-10534000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:10532000-10534000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:10532000-10534000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:10532200-10534000	Enhancers	Esophagus	oesophagus
36	chr2:10532200-10534000	Enhancers	Pancreas	Pancrea
37	chr2:10532200-10534400	Enhancers	Spleen	Spleen
38	chr2:10532200-10534800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:10532200-10534800	Enhancers	Lung	lung
40	chr2:10532400-10534000	Enhancers	HUVEC	blood vessel
41	chr2:10532400-10534000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr2:10532400-10534000	Enhancers	NHEK	skin
43	chr2:10532400-10534200	Enhancers	Duodenum Mucosa	Duodenum
44	chr2:10532600-10534000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr2:10532600-10534000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:10532600-10534000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr2:10532600-10534000	Genic enhancers	A549	lung
48	chr2:10532800-10534000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr2:10532800-10534000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:10532800-10534000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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