Variant report

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10235142	0.86[AFR][1000 genomes]
rs10235791	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10238081	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10238570	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10245828	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs10251636	0.86[AFR][1000 genomes]
rs10269236	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10281231	0.81[AFR][1000 genomes]
rs10488297	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12333476	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs12333654	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs16870497	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs17142709	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17142758	0.86[AFR][1000 genomes]
rs2402528	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28475180	0.90[EUR][1000 genomes]
rs28613778	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56159883	1.00[EUR][1000 genomes]
rs6977949	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs73432000	0.83[EUR][1000 genomes]
rs73433843	1.00[EUR][1000 genomes]
rs7357187	0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs7787689	0.92[YRI][hapmap]
rs7800215	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7809079	0.87[AFR][1000 genomes]
rs9656276	0.84[AFR][1000 genomes]
rs9691272	0.86[AFR][1000 genomes]
rs9691284	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9942620	1.00[YRI][hapmap];0.88[AFR][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	nsv1024920	chr7:120002420-120083753	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv516686	chr7:120015843-120223084	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1026821	chr7:120020317-120190437	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4370473	KCND2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120041600-120044800	Enhancers	NHEK	skin
2	chr7:120042000-120044600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:120042200-120044200	Enhancers	HMEC	breast
4	chr7:120042200-120044800	Enhancers	Hela-S3	cervix
5	chr7:120042600-120044800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:120043000-120044400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:120043200-120044200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:120043200-120044200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:120043200-120044200	Weak transcription	Stomach Mucosa	stomach
10	chr7:120043200-120075000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:120043400-120044200	Enhancers	GM12878-XiMat	blood
12	chr7:120043400-120044600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr7:120043600-120044600	Weak transcription	HUVEC	blood vessel
14	chr7:120043800-120044400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:120044000-120044200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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