Variant report

Variant	rs715813
Chromosome Location	chr1:95110434-95110435
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	chr1:95104382..95108045-chr1:95108728..95112831,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10782983	0.86[CHB][hapmap]
rs10874869	0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10874870	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10874872	0.93[ASN][1000 genomes]
rs11165184	0.86[CHB][hapmap]
rs1341643	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1341644	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2971937	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2996286	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3885983	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847325	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6541357	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7537169	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][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	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv519997	chr1:95083836-95113417	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1910	chr1:95100383-95111872	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95099800-95111600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:95100800-95110600	Weak transcription	NH-A	brain
3	chr1:95100800-95112000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:95102600-95111800	Weak transcription	HSMMtube	muscle
5	chr1:95103200-95111600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:95106800-95114200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:95107000-95112000	Enhancers	Hela-S3	cervix
8	chr1:95107200-95110600	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:95107400-95110600	Enhancers	Fetal Intestine Large	intestine
10	chr1:95108000-95114200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:95108200-95113200	Weak transcription	Colonic Mucosa	Colon
12	chr1:95108400-95110600	Enhancers	Fetal Intestine Small	intestine
13	chr1:95108400-95112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:95108400-95119000	Weak transcription	Right Ventricle	heart
15	chr1:95108600-95112200	Weak transcription	Small Intestine	intestine
16	chr1:95108600-95113200	Weak transcription	Stomach Mucosa	stomach
17	chr1:95108800-95112000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:95108800-95113000	Weak transcription	Fetal Heart	heart
19	chr1:95109200-95110800	Enhancers	NHLF	lung
20	chr1:95109200-95114800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:95109200-95114800	Enhancers	HSMM	muscle
22	chr1:95109400-95114200	Enhancers	NHEK	skin
23	chr1:95109600-95111000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:95109600-95113200	Weak transcription	Ovary	ovary
25	chr1:95109600-95114000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:95109600-95114200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:95109800-95112000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:95109800-95112000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:95109800-95112000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:95109800-95112000	Weak transcription	Placenta	Placenta
31	chr1:95109800-95114200	Enhancers	HMEC	breast
32	chr1:95109800-95119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:95110000-95111600	Weak transcription	Osteobl	bone
34	chr1:95110200-95110600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:95110200-95111800	Weak transcription	NHDF-Ad	bronchial
36	chr1:95110200-95112000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:95110400-95110600	Enhancers	Lung	lung
38	chr1:95110400-95110600	Enhancers	Pancreas	Pancrea
39	chr1:95110400-95111800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:95110400-95114200	Weak transcription	Rectal Mucosa Donor 31	rectum

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