Variant report

Variant	rs61840295
Chromosome Location	chr1:223070395-223070396
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223070135..223072909-chr1:223075701..223077307,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11487817	0.84[EUR][1000 genomes]
rs11487861	0.84[EUR][1000 genomes]
rs11597	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17163510	0.84[EUR][1000 genomes]
rs17163518	0.84[EUR][1000 genomes]
rs17163525	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35271605	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35530937	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35980718	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4415571	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61838109	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61839585	0.84[EUR][1000 genomes]
rs61839590	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61839593	0.84[EUR][1000 genomes]
rs61839607	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61839609	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61839610	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61839658	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61839659	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61840262	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61840269	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61840288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9441849	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9441937	0.95[AMR][1000 genomes];0.96[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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223051600-223070600	Weak transcription	Small Intestine	intestine
2	chr1:223055800-223082800	Weak transcription	Fetal Heart	heart
3	chr1:223060200-223071200	Weak transcription	Ovary	ovary
4	chr1:223063200-223070400	Weak transcription	Primary T cells from cord blood	blood
5	chr1:223065200-223083000	Weak transcription	Aorta	Aorta
6	chr1:223066200-223070400	Weak transcription	NHLF	lung
7	chr1:223066200-223070600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:223066800-223070600	Weak transcription	Stomach Mucosa	stomach
9	chr1:223067000-223073000	Weak transcription	Lung	lung
10	chr1:223067200-223077800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:223067400-223072800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:223067600-223071000	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:223067800-223071200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:223067800-223072600	Weak transcription	HepG2	liver
15	chr1:223067800-223073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:223067800-223089400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:223068000-223070400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:223068000-223070600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:223068000-223073000	Weak transcription	Psoas Muscle	Psoas
20	chr1:223068200-223083000	Weak transcription	Fetal Stomach	stomach
21	chr1:223069400-223070800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:223069600-223070600	Weak transcription	Right Atrium	heart
23	chr1:223070000-223070400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:223070000-223070400	Enhancers	Dnd41	blood
25	chr1:223070000-223070800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:223070000-223070800	Enhancers	Osteobl	bone
27	chr1:223070000-223071000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:223070000-223071000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:223070000-223071000	Enhancers	NHEK	skin
30	chr1:223070000-223071200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:223070000-223071800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:223070200-223070400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:223070200-223070400	Active TSS	Colon Smooth Muscle	Colon
34	chr1:223070200-223070400	Enhancers	HSMMtube	muscle
35	chr1:223070200-223070600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:223070200-223070600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:223070200-223070600	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:223070200-223070600	Enhancers	NHDF-Ad	bronchial
39	chr1:223070200-223070800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr1:223070200-223070800	Enhancers	HUVEC	blood vessel
41	chr1:223070200-223071000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:223070200-223071000	Enhancers	Adipose Nuclei	Adipose
43	chr1:223070200-223071000	Enhancers	Fetal Lung	lung
44	chr1:223070200-223071400	Enhancers	Fetal Kidney	kidney
45	chr1:223070200-223071600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:223070200-223071600	Enhancers	Primary T helper cells fromperipheralblood	blood

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