Variant report

Variant	rs2640643
Chromosome Location	chr15:40171745-40171746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40170456..40172952-chr15:40173519..40175425,2	K562	blood:
2	chr15:40169522..40171956-chr15:40172179..40175019,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11636194	1.00[AMR][1000 genomes]
rs166704	1.00[AMR][1000 genomes]
rs16969567	1.00[AMR][1000 genomes]
rs16969594	1.00[AMR][1000 genomes]
rs16969623	1.00[AMR][1000 genomes]
rs16969673	1.00[AMR][1000 genomes]
rs16969697	1.00[AMR][1000 genomes]
rs16969698	1.00[AMR][1000 genomes]
rs16969766	1.00[AMR][1000 genomes]
rs16969787	1.00[AMR][1000 genomes]
rs16969794	1.00[AMR][1000 genomes]
rs16969798	1.00[AMR][1000 genomes]
rs16969817	1.00[AMR][1000 genomes]
rs175728	1.00[AMR][1000 genomes]
rs2631699	1.00[AMR][1000 genomes]
rs275722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs275735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs275740	1.00[AMR][1000 genomes]
rs275741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs275743	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs275745	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs423983	1.00[AMR][1000 genomes]
rs56932964	1.00[AMR][1000 genomes]
rs573879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs584244	1.00[AMR][1000 genomes]
rs60403575	1.00[AMR][1000 genomes]
rs60701446	1.00[AMR][1000 genomes]
rs649015	1.00[AMR][1000 genomes]
rs650424	1.00[AMR][1000 genomes]
rs684438	1.00[AMR][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40162400-40187000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:40163200-40174200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr15:40164600-40176000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:40164800-40175000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:40165000-40176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:40165200-40176200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:40166800-40172800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:40167400-40173000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:40167800-40176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:40168000-40174000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:40168000-40174400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:40169000-40175200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:40169400-40172600	Enhancers	Hela-S3	cervix
14	chr15:40169400-40173200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:40169400-40175200	Enhancers	NHDF-Ad	bronchial
16	chr15:40169600-40178600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr15:40169800-40174200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr15:40170400-40172000	Enhancers	NHLF	lung
19	chr15:40170600-40173000	Weak transcription	K562	blood
20	chr15:40170600-40175200	Enhancers	Osteobl	bone
21	chr15:40170800-40173200	Weak transcription	HSMMtube	muscle
22	chr15:40170800-40175000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:40171000-40173000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:40171000-40176800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:40171200-40171800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:40171200-40172400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:40171200-40173200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:40171200-40176000	Weak transcription	HMEC	breast
29	chr15:40171200-40176200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:40171400-40171800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr15:40171400-40171800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:40171400-40173000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:40171400-40174800	Weak transcription	HSMM	muscle
34	chr15:40171600-40178600	Weak transcription	NH-A	brain

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