Variant report

Variant	rs73085451
Chromosome Location	chr1:215774950-215774951
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:215764142..215765932-chr1:215773289..215774956,2	K562	blood:
2	chr1:215748835..215751621-chr1:215772541..215775026,2	K562	blood:
3	chr1:215740321..215742887-chr1:215771020..215775233,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136636	Chromatin interaction

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

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

rs_ID	r²[population]
rs59214288	1.00[AFR][1000 genomes]
rs59654382	1.00[AFR][1000 genomes]
rs60427287	0.86[AFR][1000 genomes]
rs6695032	0.87[AFR][1000 genomes]
rs73083424	1.00[AFR][1000 genomes]
rs73083434	1.00[AFR][1000 genomes]
rs73083440	0.87[AFR][1000 genomes]
rs73083442	0.87[AFR][1000 genomes]
rs73083444	0.87[AFR][1000 genomes]
rs73083463	0.87[AFR][1000 genomes]
rs73083482	0.87[AFR][1000 genomes]
rs73083485	0.87[AFR][1000 genomes]
rs73083488	0.87[AFR][1000 genomes]
rs73085420	1.00[AFR][1000 genomes]
rs73085431	0.86[AFR][1000 genomes]
rs73085432	0.86[AFR][1000 genomes]
rs73085444	1.00[AFR][1000 genomes]
rs73085460	1.00[AFR][1000 genomes]
rs73085461	0.86[AFR][1000 genomes]
rs73087422	1.00[AFR][1000 genomes]
rs73087434	0.86[AFR][1000 genomes]
rs73087436	0.86[AFR][1000 genomes]
rs73087456	0.86[AFR][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	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215741800-215786200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:215741800-215809800	Weak transcription	Colonic Mucosa	Colon
3	chr1:215742000-215786400	Weak transcription	Thymus	Thymus
4	chr1:215742200-215786400	Weak transcription	Primary T cells from cord blood	blood
5	chr1:215743200-215785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:215750000-215778600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:215750000-215786200	Weak transcription	Small Intestine	intestine
8	chr1:215750000-215805000	Weak transcription	Lung	lung
9	chr1:215750200-215785800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:215750200-215786200	Weak transcription	Pancreas	Pancrea
11	chr1:215750200-215790400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:215750200-215795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:215750200-215796000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:215750200-215804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:215750200-215809200	Weak transcription	Gastric	stomach
16	chr1:215752800-215781400	Weak transcription	Hela-S3	cervix
17	chr1:215753200-215792200	Weak transcription	Aorta	Aorta
18	chr1:215753400-215778600	Weak transcription	Fetal Thymus	thymus
19	chr1:215755800-215776200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:215755800-215804800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:215757000-215782600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:215758600-215781000	Weak transcription	Dnd41	blood
23	chr1:215760400-215777000	Weak transcription	HUVEC	blood vessel
24	chr1:215760400-215786200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:215765200-215790400	Weak transcription	Esophagus	oesophagus
26	chr1:215766000-215775000	Weak transcription	Placenta	Placenta
27	chr1:215766400-215786200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:215768000-215791800	Weak transcription	Fetal Brain Male	brain
29	chr1:215768400-215777000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:215768400-215781000	Weak transcription	Fetal Kidney	kidney
31	chr1:215768400-215790600	Weak transcription	Right Ventricle	heart
32	chr1:215769000-215781000	Weak transcription	NHEK	skin
33	chr1:215769200-215775600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:215770200-215781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:215770400-215776600	Weak transcription	A549	lung
36	chr1:215770400-215776800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:215770400-215777000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:215770600-215777600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:215770600-215785000	Weak transcription	Fetal Brain Female	brain
40	chr1:215771200-215775400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:215771200-215776000	Weak transcription	HepG2	liver
42	chr1:215771200-215776200	Weak transcription	Left Ventricle	heart
43	chr1:215771200-215777000	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:215771200-215777400	Weak transcription	HMEC	breast
45	chr1:215771200-215778600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:215771200-215779000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:215771200-215781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:215771200-215782000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:215771200-215786200	Weak transcription	HSMMtube	muscle
50	chr1:215771600-215775000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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