Variant report

Variant	rs2021808
Chromosome Location	chr7:127869691-127869692
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	chr7:127654215..127656574-chr7:127869545..127871812,2	K562	blood:
2	chr7:127862647..127864792-chr7:127867370..127870104,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10264361	0.85[EUR][1000 genomes]
rs10954174	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1376349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151878	0.89[ASN][1000 genomes]
rs2060713	0.89[EUR][1000 genomes]
rs2122627	1.00[CEU][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs2167271	1.00[CEU][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs28954080	0.89[EUR][1000 genomes]
rs28954101	0.89[EUR][1000 genomes]
rs3793162	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4236625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes]
rs4731424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4731427	0.82[EUR][1000 genomes]
rs59464399	0.89[ASN][1000 genomes]
rs60625354	0.89[ASN][1000 genomes]
rs6976458	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788818	0.85[CEU][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs7795794	0.89[EUR][1000 genomes]
rs791603	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs791604	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs791606	0.86[EUR][1000 genomes]
rs791607	0.84[EUR][1000 genomes]
rs791608	0.84[EUR][1000 genomes]
rs791609	0.84[EUR][1000 genomes]
rs791616	0.89[EUR][1000 genomes]
rs791617	0.89[EUR][1000 genomes]
rs791620	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv5945	chr7:127852004-127880768	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv429811	chr7:127857891-127889049	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127844000-127875600	Weak transcription	Right Atrium	heart
2	chr7:127868000-127869800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:127868200-127870000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr7:127868400-127876800	Weak transcription	HSMMtube	muscle
5	chr7:127869200-127869800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:127869400-127870000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:127869400-127870800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:127869400-127874400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:127869600-127870200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:127869600-127870200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:127869600-127870400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr7:127869600-127870400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:127869600-127870400	Enhancers	Fetal Kidney	kidney
14	chr7:127869600-127874400	Weak transcription	Primary monocytes fromperipheralblood	blood

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