Variant report

Variant	rs2911601
Chromosome Location	chr1:85070185-85070186
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85069957..85070498-chr1:85248067..85248805,2	K562	blood:
2	chr1:84886211..84887078-chr1:85070133..85071055,2	K562	blood:
3	chr1:84907597..84908564-chr1:85069976..85070920,6	K562	blood:
4	chr1:85070056..85070847-chr1:85218987..85219628,2	K562	blood:
5	chr1:85065241..85066819-chr1:85068863..85070458,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1246157	0.83[AMR][1000 genomes]
rs1246384	1.00[AMR][1000 genomes]
rs1246385	1.00[AMR][1000 genomes]
rs1911158	1.00[AMR][1000 genomes]
rs2892837	1.00[AMR][1000 genomes]
rs2943661	1.00[AMR][1000 genomes]
rs2945139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2945144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2945151	1.00[AFR][1000 genomes]
rs2994936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2994951	1.00[AMR][1000 genomes]
rs2994956	1.00[AMR][1000 genomes]
rs3116423	1.00[AMR][1000 genomes]
rs312399	1.00[AMR][1000 genomes]
rs4907069	0.83[AMR][1000 genomes]
rs4907071	1.00[AMR][1000 genomes]
rs6576703	0.83[AMR][1000 genomes]
rs6669435	0.83[AMR][1000 genomes]
rs6681199	0.83[AMR][1000 genomes]
rs937841	1.00[AMR][1000 genomes]
rs9432822	1.00[AMR][1000 genomes]
rs9432823	1.00[AMR][1000 genomes]
rs9433226	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3364770	chr1:85069339-85078334	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85068600-85070200	Enhancers	Fetal Heart	heart
2	chr1:85069000-85070200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:85069000-85070200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr1:85069000-85070200	Flanking Active TSS	NH-A	brain
5	chr1:85069000-85070400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:85069000-85070400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:85069000-85070400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:85069000-85070400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr1:85069000-85070400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:85069000-85070400	Flanking Active TSS	NHEK	skin
11	chr1:85069000-85070600	Flanking Active TSS	Hela-S3	cervix
12	chr1:85069000-85070600	Flanking Active TSS	Osteobl	bone
13	chr1:85069200-85070200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:85069200-85070200	Flanking Active TSS	HSMMtube	muscle
15	chr1:85069200-85070400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:85069200-85070400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:85069200-85070400	Flanking Active TSS	HUVEC	blood vessel
18	chr1:85069400-85070200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:85069400-85070200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:85069400-85070200	Active TSS	Aorta	Aorta
21	chr1:85069400-85070200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr1:85069400-85070200	Enhancers	Placenta	Placenta
23	chr1:85069400-85070400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:85069400-85070400	Active TSS	Adipose Nuclei	Adipose
25	chr1:85069400-85070400	Active TSS	Right Atrium	heart
26	chr1:85069400-85070400	Flanking Active TSS	HMEC	breast
27	chr1:85069600-85070200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr1:85069600-85070400	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr1:85069600-85070400	Flanking Active TSS	K562	blood
30	chr1:85069600-85077400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:85069800-85070200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:85069800-85070200	Active TSS	Brain Hippocampus Middle	brain
33	chr1:85069800-85070200	Flanking Active TSS	NHLF	lung
34	chr1:85069800-85070400	Enhancers	Esophagus	oesophagus
35	chr1:85069800-85070400	Flanking Active TSS	HepG2	liver
36	chr1:85069800-85070400	Flanking Active TSS	HSMM	muscle
37	chr1:85069800-85070400	Flanking Active TSS	NHDF-Ad	bronchial
38	chr1:85070000-85070200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:85070000-85070200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:85070000-85070200	Enhancers	Brain Anterior Caudate	brain
41	chr1:85070000-85070200	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr1:85070000-85070400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:85070000-85070400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:85070000-85070400	Enhancers	Left Ventricle	heart
45	chr1:85070000-85070400	Enhancers	Ovary	ovary
46	chr1:85070000-85070400	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr1:85070000-85070400	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr1:85070000-85070800	Weak transcription	Right Ventricle	heart

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