Variant report

Variant	rs7587320
Chromosome Location	chr2:30496783-30496784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30495466..30498071-chr2:30668334..30670914,2	MCF-7	breast:
2	chr2:30490451..30492862-chr2:30496665..30498912,2	K562	blood:
3	chr2:30492609..30498339-chr2:30504357..30508206,5	K562	blood:
4	chr2:30452854..30457214-chr2:30493546..30497706,4	K562	blood:

Variant related genes	Relation type
ENSG00000172954	Chromatin interaction
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10495774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12469902	1.00[ASN][1000 genomes]
rs12472981	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475240	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13396720	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406665	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410030	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410363	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17322090	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17322097	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17394102	1.00[ASN][1000 genomes]
rs72787730	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787734	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787741	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787743	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787745	1.00[ASN][1000 genomes]
rs72787748	1.00[ASN][1000 genomes]
rs7563661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569754	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572714	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574911	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7579019	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606266	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608977	0.96[AMR][1000 genomes];0.96[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	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	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:30488800-30498400	Enhancers	Fetal Heart	heart
3	chr2:30491600-30497400	Weak transcription	Thymus	Thymus
4	chr2:30491600-30499200	Weak transcription	GM12878-XiMat	blood
5	chr2:30491800-30501600	Weak transcription	Primary T cells from cord blood	blood
6	chr2:30491800-30501800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:30492600-30501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:30493400-30506800	Weak transcription	Right Ventricle	heart
9	chr2:30493800-30497000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:30494200-30497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:30494600-30499000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:30494600-30499400	Weak transcription	Fetal Thymus	thymus
13	chr2:30494600-30507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:30494800-30497600	Weak transcription	Lung	lung
15	chr2:30494800-30505800	Weak transcription	K562	blood
16	chr2:30495200-30498200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:30495400-30497000	Flanking Active TSS	A549	lung
18	chr2:30495400-30497600	Enhancers	NH-A	brain
19	chr2:30495400-30497800	Enhancers	Placenta	Placenta
20	chr2:30495400-30497800	Enhancers	Spleen	Spleen
21	chr2:30495400-30498400	Enhancers	HSMM	muscle
22	chr2:30495400-30498400	Enhancers	NHLF	lung
23	chr2:30495400-30499800	Enhancers	Fetal Intestine Large	intestine
24	chr2:30495400-30499800	Enhancers	Fetal Intestine Small	intestine
25	chr2:30495600-30496800	Enhancers	Fetal Lung	lung
26	chr2:30495600-30497800	Enhancers	Small Intestine	intestine
27	chr2:30495600-30498400	Enhancers	HUVEC	blood vessel
28	chr2:30495600-30498400	Enhancers	NHDF-Ad	bronchial
29	chr2:30495600-30498600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:30495800-30496800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:30495800-30496800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:30495800-30496800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr2:30495800-30496800	Enhancers	Esophagus	oesophagus
34	chr2:30495800-30496800	Flanking Active TSS	Hela-S3	cervix
35	chr2:30495800-30497000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:30495800-30497200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:30495800-30497400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:30495800-30497400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr2:30495800-30497400	Enhancers	HMEC	breast
40	chr2:30495800-30497400	Enhancers	NHEK	skin
41	chr2:30495800-30497600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:30495800-30498000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:30495800-30498000	Enhancers	Fetal Stomach	stomach
44	chr2:30495800-30498200	Weak transcription	Primary B cells from cord blood	blood
45	chr2:30495800-30498400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:30495800-30498400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:30495800-30498400	Enhancers	Stomach Mucosa	stomach
48	chr2:30495800-30498600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:30495800-30499600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:30495800-30499600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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