Variant report

Variant	rs74008889
Chromosome Location	chr15:40101194-40101195
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	chr15:40100546..40103005-chr15:40104624..40106146,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1684931	1.00[EUR][1000 genomes]
rs16969843	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16969863	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs175727	1.00[EUR][1000 genomes]
rs2164482	1.00[EUR][1000 genomes]
rs2171313	0.90[AFR][1000 genomes]
rs55633725	1.00[EUR][1000 genomes]
rs56058711	1.00[EUR][1000 genomes]
rs56933828	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57014511	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57761246	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58280876	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58367323	1.00[EUR][1000 genomes]
rs58436679	1.00[EUR][1000 genomes]
rs58766307	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59234879	0.83[AFR][1000 genomes]
rs592772	1.00[EUR][1000 genomes]
rs59701034	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60642936	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs643897	1.00[EUR][1000 genomes]
rs644743	1.00[EUR][1000 genomes]
rs655289	1.00[EUR][1000 genomes]
rs7179252	1.00[EUR][1000 genomes]
rs74008875	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74008885	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74008890	1.00[EUR][1000 genomes]
rs74008974	1.00[EUR][1000 genomes]
rs74008978	1.00[EUR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40076000-40103200	Weak transcription	Right Atrium	heart
2	chr15:40091000-40102600	Weak transcription	Adipose Nuclei	Adipose
3	chr15:40094400-40102400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:40094400-40109600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:40094400-40120400	Weak transcription	HSMMtube	muscle
6	chr15:40095400-40102600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:40096200-40120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:40096800-40111600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:40097200-40102400	Weak transcription	HMEC	breast
10	chr15:40097200-40110000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:40098800-40112200	Weak transcription	NHDF-Ad	bronchial
12	chr15:40099400-40109600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:40099400-40109800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr15:40099400-40110000	Weak transcription	Osteobl	bone
15	chr15:40099400-40110800	Weak transcription	Aorta	Aorta
16	chr15:40099400-40115000	Weak transcription	NHLF	lung
17	chr15:40099400-40116600	Weak transcription	HSMM	muscle
18	chr15:40100000-40103000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr15:40100000-40103200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr15:40100000-40103200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:40100000-40103400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr15:40100200-40103000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr15:40100200-40103200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr15:40100400-40101400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:40100400-40102000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr15:40100600-40102000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:40100600-40107000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:40100800-40101800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr15:40100800-40101800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr15:40101000-40101200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr15:40101000-40101400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:40101000-40101800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:40101000-40102000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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