Variant report

Variant	rs7320271
Chromosome Location	chr13:30513939-30513940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30512486..30516242-chr13:30529306..30532066,3	K562	blood:
2	chr13:30513452..30517431-chr13:30524367..30526986,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1041577	0.84[CHB][hapmap]
rs1093631	0.92[CHB][hapmap];0.86[JPT][hapmap];0.99[ASN][1000 genomes]
rs1325368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17074100	0.84[CHB][hapmap]
rs17074118	0.84[CHB][hapmap]
rs17074120	0.84[CHB][hapmap]
rs17631642	0.91[CHB][hapmap];0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs17688104	0.90[CHB][hapmap];0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs2388239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3843677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3843678	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4318068	0.87[ASN][1000 genomes]
rs4769779	0.87[ASN][1000 genomes]
rs4769780	0.87[ASN][1000 genomes]
rs4769781	0.87[ASN][1000 genomes]
rs4769782	0.84[CHB][hapmap]
rs4769783	0.84[CHB][hapmap]
rs585668	0.87[ASN][1000 genomes]
rs73157197	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7319246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322038	0.87[ASN][1000 genomes]
rs74042894	0.95[ASN][1000 genomes]
rs7992473	0.92[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs7994222	0.83[ASN][1000 genomes]
rs843883	0.87[ASN][1000 genomes]
rs927731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs927732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs927733	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9508590	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs9508592	0.84[ASN][1000 genomes]
rs9508594	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30509800-30515000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr13:30510400-30515000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:30510800-30521600	Weak transcription	Pancreas	Pancrea
4	chr13:30511600-30514000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr13:30511600-30514400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:30511600-30514800	Weak transcription	Liver	Liver
7	chr13:30511800-30514400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr13:30512200-30514200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr13:30512400-30514000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr13:30512400-30514200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:30512400-30518400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr13:30512800-30515800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr13:30513000-30514000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr13:30513000-30514800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr13:30513000-30517200	Weak transcription	Primary T cells from cord blood	blood
16	chr13:30513200-30514000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr13:30513200-30514200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr13:30513600-30514000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:30513600-30514400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:30513800-30514400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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