Variant report

Variant	rs3917633
Chromosome Location	chr1:94995585-94995586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11165150	0.84[ASN][1000 genomes]
rs12094329	0.88[EUR][1000 genomes]
rs12404710	0.84[ASN][1000 genomes]
rs1324214	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1415758	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148045	0.92[EUR][1000 genomes];0.81[ASN][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	nsv871764	chr1:94917402-95004084	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94917800-95000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:94923800-95000400	Weak transcription	Aorta	Aorta
3	chr1:94942400-94997200	Weak transcription	Right Ventricle	heart
4	chr1:94956200-95004000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:94958600-95004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:94965400-94995800	Weak transcription	HSMM	muscle
7	chr1:94965600-95000400	Weak transcription	Small Intestine	intestine
8	chr1:94965600-95006400	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:94969200-94996200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:94969200-95000400	Weak transcription	Colonic Mucosa	Colon
11	chr1:94970400-94996000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:94970400-95003800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:94971000-94996600	Weak transcription	Fetal Stomach	stomach
14	chr1:94971000-94999800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:94971400-94995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:94972200-95004400	Weak transcription	A549	lung
17	chr1:94972400-94995600	Weak transcription	Left Ventricle	heart
18	chr1:94972400-94995800	Weak transcription	NHEK	skin
19	chr1:94979200-95005000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:94983400-94996800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:94984200-94995800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:94984800-94995600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:94984800-94995800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:94985000-94995800	Weak transcription	Dnd41	blood
25	chr1:94985200-95001200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:94985800-94995600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:94986000-95006200	Weak transcription	Liver	Liver
28	chr1:94986200-94995800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:94986400-94995800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:94988800-95000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:94991600-95004000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:94992200-94996000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:94992200-94997200	Weak transcription	HepG2	liver
34	chr1:94992800-94996000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:94993000-94998000	Weak transcription	Osteobl	bone
36	chr1:94993200-94997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:94993400-94996000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:94993400-95001000	Weak transcription	Brain Anterior Caudate	brain
39	chr1:94993600-94995800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:94993600-94996000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:94993600-94996400	Weak transcription	Lung	lung
42	chr1:94993600-94997200	Weak transcription	Gastric	stomach
43	chr1:94993600-95001800	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:94993600-95002400	Weak transcription	Stomach Mucosa	stomach
45	chr1:94993600-95002800	Weak transcription	Fetal Brain Male	brain
46	chr1:94993600-95004800	Weak transcription	HSMMtube	muscle
47	chr1:94993800-94996000	Weak transcription	NHDF-Ad	bronchial
48	chr1:94994000-94995800	Weak transcription	Hela-S3	cervix
49	chr1:94994000-94996000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:94994000-94996400	Weak transcription	Fetal Brain Female	brain

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