Variant report

Variant	rs2357471
Chromosome Location	chr2:10377014-10377015
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10376915..10378477-chr2:10380255..10383214,2	K562	blood:
2	chr2:10376539..10378609-chr2:10444548..10446781,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16855971	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1985757	0.86[ASN][1000 genomes]
rs2357469	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4644993	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55832144	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57628045	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58576249	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60317589	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6432077	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6432079	0.99[ASN][1000 genomes]
rs7560884	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs759339	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759340	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601250	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7601679	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs887966	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv818977	chr2:10333767-10393038	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv34981	chr2:10341468-10384302	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv35171	chr2:10341468-10384302	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756904	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv2759024	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv873637	chr2:10349858-10381434	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv873638	chr2:10351852-10381434	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	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
9	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr2:10373800-10380000	Weak transcription	Gastric	stomach
2	chr2:10374200-10378200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr2:10374200-10379000	Enhancers	Left Ventricle	heart
4	chr2:10374400-10380000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr2:10374800-10377400	Enhancers	HSMM	muscle
6	chr2:10374800-10378200	Enhancers	HSMMtube	muscle
7	chr2:10374800-10380400	Enhancers	Right Ventricle	heart
8	chr2:10375200-10377600	Weak transcription	Ovary	ovary
9	chr2:10375400-10377800	Weak transcription	HUVEC	blood vessel
10	chr2:10375600-10381000	Weak transcription	Fetal Intestine Small	intestine
11	chr2:10376000-10378000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:10376400-10377200	Weak transcription	Stomach Mucosa	stomach
13	chr2:10376600-10378400	Weak transcription	Right Atrium	heart
14	chr2:10376600-10379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:10376800-10377200	Enhancers	HMEC	breast
16	chr2:10376800-10377600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:10376800-10378200	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr2:10376800-10378800	Enhancers	Lung	lung
19	chr2:10377000-10378200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:10377000-10380400	Enhancers	Spleen	Spleen

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