Variant report

Variant	rs57463770
Chromosome Location	chr7:127746393-127746394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127745939..127747505-chr7:127754984..127756729,2	K562	blood:
2	chr7:127740635..127743022-chr7:127746178..127748843,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10258271	0.96[EUR][1000 genomes]
rs17735366	0.97[EUR][1000 genomes]
rs3757757	0.82[AFR][1000 genomes]
rs3808053	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731400	0.81[EUR][1000 genomes]
rs59096474	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60087663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226605	0.81[EUR][1000 genomes]
rs73226606	0.81[EUR][1000 genomes]
rs73238099	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73238100	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73239707	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239713	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73239718	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239720	0.96[EUR][1000 genomes]
rs7790439	0.81[EUR][1000 genomes]
rs7790858	0.81[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	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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127734400-127748200	Weak transcription	Dnd41	blood
2	chr7:127744600-127761600	Weak transcription	Right Atrium	heart
3	chr7:127744800-127746600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:127744800-127746800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:127744800-127747200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:127744800-127748600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr7:127744800-127748800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr7:127744800-127753200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr7:127744800-127753400	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:127745000-127746600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:127745000-127746600	Weak transcription	Primary T cells from cord blood	blood
12	chr7:127745000-127746800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:127745000-127747800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:127745400-127746800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:127745600-127746800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:127745800-127746800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:127745800-127747800	Weak transcription	Spleen	Spleen
18	chr7:127745800-127749000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr7:127746000-127746400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:127746000-127746600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr7:127746000-127747000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:127746200-127746400	Bivalent Enhancer	Primary hematopoietic stem cells	blood

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