Variant report

Variant	rs61799969
Chromosome Location	chr1:76221854-76221855
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11161493	0.86[EUR][1000 genomes]
rs1146574	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1146579	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1146580	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1146581	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1146588	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12136754	0.85[EUR][1000 genomes]
rs1250874	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1251075	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1303169	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1313071	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1498317	0.82[EUR][1000 genomes]
rs1611823	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1612097	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1613437	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1694419	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1694424	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1767455	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1767456	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1767458	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1770511	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1858536	0.82[EUR][1000 genomes]
rs1890452	0.86[EUR][1000 genomes]
rs2066183	0.82[EUR][1000 genomes]
rs2153126	0.86[EUR][1000 genomes]
rs2173378	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2185435	0.86[EUR][1000 genomes]
rs2185436	0.86[EUR][1000 genomes]
rs2275378	0.86[EUR][1000 genomes]
rs2788654	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3818855	0.86[EUR][1000 genomes]
rs57186386	0.85[EUR][1000 genomes]
rs6593514	0.86[EUR][1000 genomes]
rs6593515	0.85[EUR][1000 genomes]
rs7535991	0.82[EUR][1000 genomes]
rs7541058	0.82[EUR][1000 genomes]
rs7544117	0.82[EUR][1000 genomes]
rs7546641	0.82[EUR][1000 genomes]
rs7550974	0.86[EUR][1000 genomes]
rs7554984	0.81[EUR][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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76192000-76227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:76192200-76222000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:76196000-76222000	Strong transcription	Liver	Liver
4	chr1:76202000-76225000	Weak transcription	Stomach Mucosa	stomach
5	chr1:76203400-76230800	Weak transcription	NHDF-Ad	bronchial
6	chr1:76204800-76229000	Weak transcription	Psoas Muscle	Psoas
7	chr1:76208600-76223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:76208800-76231400	Weak transcription	A549	lung
9	chr1:76208800-76231400	Weak transcription	NHEK	skin
10	chr1:76208800-76231600	Weak transcription	Hela-S3	cervix
11	chr1:76209000-76230800	Weak transcription	HUVEC	blood vessel
12	chr1:76209000-76230800	Weak transcription	NHLF	lung
13	chr1:76210200-76223000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:76210200-76231800	Weak transcription	HSMMtube	muscle
15	chr1:76211600-76230800	Weak transcription	HMEC	breast
16	chr1:76215800-76222000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:76215800-76222000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:76216000-76222000	Strong transcription	Left Ventricle	heart
19	chr1:76216000-76222200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr1:76216000-76222400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:76216200-76222000	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:76217000-76222000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:76217600-76231400	Weak transcription	Osteobl	bone
24	chr1:76217800-76222000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:76218000-76222600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:76219400-76222000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:76219400-76222000	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr1:76219600-76222000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr1:76219600-76222000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr1:76219600-76222000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr1:76219600-76222000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:76219600-76222000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
33	chr1:76219600-76222000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr1:76219600-76222000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr1:76219600-76222600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:76219600-76230600	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:76219800-76222000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:76219800-76222000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:76219800-76222200	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr1:76220000-76222000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:76220000-76222000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:76220200-76222000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:76220200-76222000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:76220200-76222000	Strong transcription	Brain Substantia Nigra	brain
45	chr1:76220200-76222000	ZNF genes & repeats	Fetal Lung	lung
46	chr1:76220200-76222600	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr1:76220200-76223400	Weak transcription	K562	blood
48	chr1:76220400-76222000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:76220400-76222000	Strong transcription	Brain Angular Gyrus	brain
50	chr1:76220400-76222200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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