Variant report

Variant	rs6661485
Chromosome Location	chr1:95083182-95083183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10782984	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11165185	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1343479	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1539151	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1539622	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539623	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111912	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2226095	0.80[EUR][1000 genomes]
rs35360343	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3814017	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4351649	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4847317	0.90[ASN][1000 genomes]
rs7526391	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550601	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	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
3	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv947122	chr1:95081067-95089572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95065600-95087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:95075200-95088400	Weak transcription	Fetal Lung	lung
3	chr1:95075600-95086000	Weak transcription	Fetal Stomach	stomach
4	chr1:95078600-95085200	Weak transcription	Pancreas	Pancrea
5	chr1:95078600-95086000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:95080800-95085200	Weak transcription	Gastric	stomach
7	chr1:95080800-95085200	Weak transcription	Lung	lung
8	chr1:95080800-95086800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:95081000-95085400	Weak transcription	Stomach Mucosa	stomach
10	chr1:95081600-95083800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:95081800-95083400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:95081800-95083400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:95081800-95083400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:95081800-95083400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:95081800-95083600	Enhancers	Fetal Intestine Small	intestine
16	chr1:95082000-95083400	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:95082000-95083400	Enhancers	Fetal Intestine Large	intestine
18	chr1:95082000-95083600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:95082000-95083600	Enhancers	HMEC	breast
20	chr1:95082000-95083800	Enhancers	NH-A	brain
21	chr1:95082000-95083800	Enhancers	NHEK	skin
22	chr1:95082000-95084000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:95082000-95084000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:95082000-95084200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:95082000-95084200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:95082200-95083800	Enhancers	Hela-S3	cervix
27	chr1:95082200-95083800	Enhancers	NHDF-Ad	bronchial
28	chr1:95082200-95084200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:95082400-95083200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:95082400-95083400	Enhancers	Small Intestine	intestine
31	chr1:95082400-95083600	Enhancers	HSMM	muscle
32	chr1:95082400-95083800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:95082400-95083800	Enhancers	NHLF	lung
34	chr1:95082400-95084000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:95082400-95084400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:95082400-95086200	Weak transcription	Fetal Heart	heart
37	chr1:95082600-95083200	Enhancers	A549	lung
38	chr1:95082600-95088200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:95082800-95083200	Enhancers	Placenta	Placenta
40	chr1:95082800-95083400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:95082800-95083400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:95082800-95083400	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr1:95082800-95083800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:95082800-95083800	Enhancers	Osteobl	bone
45	chr1:95082800-95088200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:95083000-95083800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:95083000-95083800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:95083000-95084000	Enhancers	Colonic Mucosa	Colon
49	chr1:95083000-95084000	Enhancers	HepG2	liver
50	chr1:95083000-95087600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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