Variant report

Variant	rs323562
Chromosome Location	chr5:40853160-40853161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40832678..40834651-chr5:40851287..40853714,2	K562	blood:
2	chr5:40839582..40842415-chr5:40852942..40856062,3	K562	blood:
3	chr5:40798425..40801370-chr5:40851510..40853477,2	K562	blood:
4	chr5:40835369..40837107-chr5:40851316..40853439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction
ENSG00000132357	Chromatin interaction
ENSG00000212296	Chromatin interaction
ENSG00000132356	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10064232	0.94[ASN][1000 genomes]
rs1070444	1.00[JPT][hapmap]
rs1070445	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1097592	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1097604	1.00[ASN][1000 genomes]
rs152374	1.00[JPT][hapmap]
rs1530811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs154272	0.81[ASN][1000 genomes]
rs154273	0.94[ASN][1000 genomes]
rs154274	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs154276	1.00[JPT][hapmap]
rs154278	1.00[JPT][hapmap]
rs154282	1.00[JPT][hapmap]
rs154283	1.00[JPT][hapmap]
rs1631661	0.94[ASN][1000 genomes]
rs1645509	0.81[ASN][1000 genomes]
rs166282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1697929	1.00[ASN][1000 genomes]
rs1697937	1.00[ASN][1000 genomes]
rs173619	0.81[ASN][1000 genomes]
rs181820	0.81[ASN][1000 genomes]
rs181821	0.81[ASN][1000 genomes]
rs1833892	0.94[ASN][1000 genomes]
rs184436	1.00[ASN][1000 genomes]
rs187274	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs192962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2262009	1.00[ASN][1000 genomes]
rs249411	1.00[CHD][hapmap]
rs249439	0.81[ASN][1000 genomes]
rs249443	0.94[ASN][1000 genomes]
rs249444	0.94[ASN][1000 genomes]
rs29737	1.00[JPT][hapmap]
rs29762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs29763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs29764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs323554	0.94[ASN][1000 genomes]
rs323556	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs323560	1.00[ASN][1000 genomes]
rs34236150	0.81[ASN][1000 genomes]
rs370346	0.81[ASN][1000 genomes]
rs396412	0.81[ASN][1000 genomes]
rs39794	0.94[ASN][1000 genomes]
rs408238	0.94[ASN][1000 genomes]
rs418494	1.00[ASN][1000 genomes]
rs424787	0.81[ASN][1000 genomes]
rs42515	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs433730	1.00[ASN][1000 genomes]
rs438604	0.81[ASN][1000 genomes]
rs441016	0.81[ASN][1000 genomes]
rs442869	0.94[ASN][1000 genomes]
rs445367	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs455374	0.81[ASN][1000 genomes]
rs455519	1.00[JPT][hapmap]
rs457111	0.81[ASN][1000 genomes]
rs458884	0.81[ASN][1000 genomes]
rs459491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs459794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs460752	0.81[ASN][1000 genomes]
rs463040	0.81[ASN][1000 genomes]
rs463675	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs463905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs464045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs464191	0.81[ASN][1000 genomes]
rs465467	0.81[ASN][1000 genomes]
rs466960	0.94[ASN][1000 genomes]
rs467438	0.81[ASN][1000 genomes]
rs694217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs704034	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7717507	0.94[ASN][1000 genomes]
rs837102	1.00[JPT][hapmap]
rs837378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs837381	1.00[ASN][1000 genomes]
rs837382	1.00[ASN][1000 genomes]
rs837384	1.00[ASN][1000 genomes]
rs837385	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs837389	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	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 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	chr5:40842200-40853800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:40842400-40853400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:40842400-40853800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:40842400-40854200	Weak transcription	Fetal Stomach	stomach
5	chr5:40842400-40854600	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:40842800-40853200	Weak transcription	Fetal Intestine Small	intestine
7	chr5:40842800-40854000	Weak transcription	Aorta	Aorta
8	chr5:40842800-40856000	Weak transcription	Right Ventricle	heart
9	chr5:40843600-40854000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:40843600-40857800	Weak transcription	Osteobl	bone
11	chr5:40849800-40854800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:40849800-40856000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:40849800-40857400	Weak transcription	Primary B cells from cord blood	blood
14	chr5:40850200-40854000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:40851200-40855400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:40851400-40853400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:40851400-40854400	Weak transcription	HSMMtube	muscle
18	chr5:40851400-40855000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:40851800-40854400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:40851800-40854800	Strong transcription	Lung	lung
21	chr5:40851800-40856200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:40852000-40853800	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:40852000-40854000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:40852000-40854400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:40852000-40854600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:40852000-40854600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:40852000-40854600	Strong transcription	Adipose Nuclei	Adipose
28	chr5:40852000-40854600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:40852000-40854600	Strong transcription	Spleen	Spleen
30	chr5:40852000-40856000	Weak transcription	Fetal Lung	lung
31	chr5:40852000-40856400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:40852200-40854000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:40852200-40854800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr5:40852400-40853400	Strong transcription	Hela-S3	cervix
35	chr5:40852400-40853400	Strong transcription	HUVEC	blood vessel
36	chr5:40852400-40854000	Strong transcription	Esophagus	oesophagus
37	chr5:40852400-40854200	Strong transcription	Liver	Liver
38	chr5:40852400-40854400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:40852400-40854600	Strong transcription	Gastric	stomach
40	chr5:40852600-40853400	Strong transcription	Small Intestine	intestine
41	chr5:40852600-40854000	Strong transcription	Primary T cells from cord blood	blood
42	chr5:40852600-40855200	Strong transcription	Placenta	Placenta
43	chr5:40852800-40853600	Weak transcription	Ovary	ovary
44	chr5:40852800-40865200	Weak transcription	Pancreas	Pancrea
45	chr5:40853000-40854600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:40853000-40856200	Weak transcription	Left Ventricle	heart

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