Variant report

Variant	rs1183640
Chromosome Location	chr5:94793930-94793931
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:94789443..94791165-chr5:94792736..94794259,2	K562	blood:
2	chr5:94792884..94795047-chr5:94796049..94797784,2	MCF-7	breast:
3	chr5:94792282..94796231-chr5:94797879..94800684,4	K562	blood:
4	chr5:94792282..94794324-chr5:94798104..94800472,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10053324	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10076499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1541798	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1981952	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2245588	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2255165	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2545841	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2548652	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2560257	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2560258	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2560260	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2560261	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2560274	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2731825	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2731826	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2731833	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2881976	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61270217	0.81[ASN][1000 genomes]
rs6556870	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73777211	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9314148	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[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	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv598954	chr5:94783175-94859599	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94777000-94798600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:94780400-94810800	Weak transcription	Pancreas	Pancrea
3	chr5:94782000-94810200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:94782600-94800000	Weak transcription	HMEC	breast
5	chr5:94783200-94796000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:94783400-94795000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:94783400-94795800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:94783400-94798600	Weak transcription	Gastric	stomach
9	chr5:94783400-94798600	Weak transcription	Left Ventricle	heart
10	chr5:94783600-94797200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:94783600-94798400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:94785000-94798600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:94785000-94798600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:94785200-94796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:94785200-94796000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:94785200-94796200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:94785600-94795800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:94788400-94811200	Weak transcription	Small Intestine	intestine
19	chr5:94788600-94798600	Weak transcription	Lung	lung
20	chr5:94788800-94822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:94789000-94798600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:94789600-94798400	Weak transcription	HSMMtube	muscle
23	chr5:94789800-94795000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:94790000-94798600	Weak transcription	Aorta	Aorta
25	chr5:94790400-94798400	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:94790600-94810800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:94791000-94798600	Weak transcription	NH-A	brain
28	chr5:94791200-94798600	Weak transcription	Brain Angular Gyrus	brain
29	chr5:94791400-94798400	Weak transcription	Placenta	Placenta
30	chr5:94791800-94796000	Weak transcription	Osteobl	bone
31	chr5:94791800-94811200	Weak transcription	Hela-S3	cervix
32	chr5:94792000-94795800	Weak transcription	Primary B cells from cord blood	blood
33	chr5:94792600-94794800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:94792600-94798800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:94792600-94817800	Weak transcription	Brain Substantia Nigra	brain
36	chr5:94792600-94821800	Weak transcription	Right Ventricle	heart
37	chr5:94793200-94796000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:94793400-94795600	Weak transcription	Primary T cells from cord blood	blood
39	chr5:94793400-94795600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:94793400-94797400	Weak transcription	Brain Germinal Matrix	brain
41	chr5:94793400-94797600	Weak transcription	HSMM	muscle
42	chr5:94793400-94798400	Weak transcription	HUVEC	blood vessel
43	chr5:94793400-94801200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:94793600-94795200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:94793600-94795200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:94793600-94795800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:94793600-94798600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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