Variant report

Variant	rs61772625
Chromosome Location	chr1:57011200-57011201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57010110..57012912-chr1:57012991..57015582,3	K562	blood:
2	chr1:57010225..57012912-chr1:57013019..57015582,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1041602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17416285	1.00[ASN][1000 genomes]
rs17470169	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1759753	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1777279	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1819750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3927760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3927761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41487448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772578	0.96[AMR][1000 genomes]
rs61772592	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772595	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772618	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772626	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674131	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9437006	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
2	chr1:56992800-57011200	Weak transcription	Stomach Mucosa	stomach
3	chr1:56994000-57012400	Weak transcription	Fetal Brain Male	brain
4	chr1:56994000-57012800	Weak transcription	Fetal Brain Female	brain
5	chr1:56999400-57012800	Weak transcription	HSMMtube	muscle
6	chr1:57000400-57013000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:57001200-57018800	Weak transcription	A549	lung
8	chr1:57001800-57018600	Weak transcription	Small Intestine	intestine
9	chr1:57001800-57021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:57002800-57013200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:57002800-57018600	Weak transcription	Thymus	Thymus
12	chr1:57003200-57011400	Weak transcription	Lung	lung
13	chr1:57003200-57019800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:57003400-57015400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:57003600-57013200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:57003800-57011200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:57004000-57011200	Weak transcription	Spleen	Spleen
18	chr1:57004000-57014800	Weak transcription	Fetal Thymus	thymus
19	chr1:57004200-57011400	Weak transcription	Esophagus	oesophagus
20	chr1:57004400-57013200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:57005600-57013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:57005800-57011200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:57005800-57013200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:57006200-57012200	Weak transcription	Fetal Intestine Large	intestine
25	chr1:57006600-57012200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:57007400-57028400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:57007600-57011400	Weak transcription	Adipose Nuclei	Adipose
28	chr1:57007600-57013400	Weak transcription	Osteobl	bone
29	chr1:57007800-57015400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:57008400-57013000	Weak transcription	HSMM	muscle
31	chr1:57008600-57012400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:57008600-57013200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:57008600-57014800	Weak transcription	Brain Germinal Matrix	brain
34	chr1:57008600-57015000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:57008800-57011400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:57008800-57013400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:57009200-57011600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:57009200-57012000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:57009200-57014600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:57009400-57011400	Enhancers	Brain Substantia Nigra	brain
41	chr1:57009400-57012200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:57009600-57012000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:57009600-57012000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:57009600-57028000	Weak transcription	Fetal Kidney	kidney
45	chr1:57009800-57012400	Enhancers	Fetal Lung	lung
46	chr1:57009800-57013200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:57010200-57012000	Enhancers	Brain Cingulate Gyrus	brain
48	chr1:57010400-57011400	Enhancers	Pancreas	Pancrea
49	chr1:57010400-57011600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:57010400-57011600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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