Variant report

Variant	rs7583600
Chromosome Location	chr2:30872064-30872065
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30870789..30872377-chr2:30883033..30885539,2	K562	blood:
2	chr2:30869127..30871765-chr2:30871926..30874749,3	K562	blood:
3	chr2:30864804..30866571-chr2:30870628..30873251,2	MCF-7	breast:
4	chr2:30867045..30872289-chr2:30881194..30886841,8	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10495777	0.95[CEU][hapmap];0.87[CHB][hapmap]
rs11127282	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12052260	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs12052683	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12053230	0.83[CHB][hapmap]
rs12613783	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12993664	0.91[CEU][hapmap]
rs13034406	0.91[CEU][hapmap]
rs1525063	0.82[CHB][hapmap]
rs17009938	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17038632	0.95[CEU][hapmap];0.82[CHB][hapmap];0.94[GIH][hapmap]
rs17322869	0.94[CEU][hapmap]
rs1975559	0.86[EUR][1000 genomes]
rs2123755	0.84[ASN][1000 genomes]
rs2602777	0.82[AMR][1000 genomes]
rs2602778	0.84[ASN][1000 genomes]
rs4416262	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6548025	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6548026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6718730	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs72798200	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7583770	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7585111	0.80[EUR][1000 genomes]
rs895663	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs958580	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[EUR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv581266	chr2:30864789-30874229	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
2	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:30860400-30878200	Weak transcription	NHLF	lung
7	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
8	chr2:30861600-30872200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:30863600-30882200	Weak transcription	Ovary	ovary
10	chr2:30864000-30874800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:30864200-30872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:30864800-30875200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:30864800-30876600	Weak transcription	Osteobl	bone
14	chr2:30865000-30872200	Weak transcription	Aorta	Aorta
15	chr2:30865000-30875200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:30865200-30872200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:30865200-30873000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:30865200-30877000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:30865200-30878200	Weak transcription	A549	lung
20	chr2:30866800-30872200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:30869200-30878000	Weak transcription	Psoas Muscle	Psoas
22	chr2:30871400-30873600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:30871600-30872400	Enhancers	Lung	lung
24	chr2:30871600-30873000	Enhancers	Fetal Muscle Leg	muscle
25	chr2:30871800-30872200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:30871800-30872400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:30871800-30872400	Enhancers	Left Ventricle	heart
28	chr2:30871800-30872400	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:30871800-30872600	Enhancers	HSMMtube	muscle
30	chr2:30872000-30872200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:30872000-30872200	Enhancers	Fetal Intestine Small	intestine
32	chr2:30872000-30872200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:30872000-30872400	Enhancers	Fetal Stomach	stomach
34	chr2:30872000-30872600	Enhancers	Right Ventricle	heart
35	chr2:30872000-30872600	Enhancers	NHDF-Ad	bronchial

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