Variant report

Variant	rs7136583
Chromosome Location	chr12:4805158-4805159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10047570	0.83[ASN][1000 genomes]
rs10082907	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10083146	0.96[ASN][1000 genomes]
rs10083152	0.93[ASN][1000 genomes]
rs1009633	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10160902	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1024655	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10774256	0.86[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10774259	0.95[ASN][1000 genomes]
rs10774260	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774267	0.81[CHB][hapmap]
rs10849125	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10849126	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs10849127	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs10849129	0.83[ASN][1000 genomes]
rs10849130	0.91[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs10849131	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs10849133	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs10849137	0.81[ASN][1000 genomes]
rs10849138	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs10849139	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs10849143	0.81[CHB][hapmap]
rs11063314	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs11063318	0.83[ASN][1000 genomes]
rs12296205	0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs12320374	0.81[ASN][1000 genomes]
rs1468556	0.90[CHB][hapmap];0.98[CHD][hapmap]
rs17783373	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1990310	0.96[ASN][1000 genomes]
rs2109099	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2109100	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2159354	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2159355	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2191157	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2240761	0.86[ASN][1000 genomes]
rs2240762	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2267552	0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2286578	0.91[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.86[MKK][hapmap];0.83[ASN][1000 genomes]
rs2286580	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2286581	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs2286582	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs2302244	0.88[ASN][1000 genomes]
rs2359466	0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2359467	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs35049745	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3782740	0.90[CHB][hapmap];0.93[CHD][hapmap];0.83[ASN][1000 genomes]
rs3782741	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs3782742	0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs4147689	0.83[ASN][1000 genomes]
rs4147696	0.96[ASN][1000 genomes]
rs4765779	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4765780	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4765781	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4765782	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4766272	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4766276	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766278	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766279	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766280	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766281	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766282	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766283	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4766286	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs6489558	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6489560	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6489565	0.81[ASN][1000 genomes]
rs6489566	0.81[ASN][1000 genomes]
rs7132030	0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs7136382	0.91[ASN][1000 genomes]
rs7137040	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7137660	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7305387	0.81[ASN][1000 genomes]
rs7305525	0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7306235	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7311475	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7311675	0.95[CHB][hapmap]
rs7311694	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs7312119	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7315211	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs7316209	0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7953170	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7953399	0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap]
rs7966628	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7967117	0.81[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap]
rs7972019	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7972501	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7975978	0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7976011	0.81[ASN][1000 genomes]
rs9300304	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[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	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7136583	WNK1	cis	parietal	SCAN
rs7136583	PRICKLE3	trans	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4780200-4809200	Weak transcription	Fetal Heart	heart
2	chr12:4787800-4810800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:4791200-4806200	Strong transcription	Primary T cells from cord blood	blood
4	chr12:4791200-4806600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr12:4792600-4809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:4795000-4810000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:4795400-4806800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:4797000-4811000	Weak transcription	Small Intestine	intestine
9	chr12:4797400-4807400	Weak transcription	GM12878-XiMat	blood
10	chr12:4797400-4809800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:4797400-4809800	Weak transcription	NH-A	brain
12	chr12:4797600-4805200	Weak transcription	Colonic Mucosa	Colon
13	chr12:4797600-4805400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:4797600-4805600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:4797600-4807800	Weak transcription	Brain Substantia Nigra	brain
16	chr12:4797600-4809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:4797600-4809800	Weak transcription	Gastric	stomach
18	chr12:4797600-4809800	Weak transcription	Right Ventricle	heart
19	chr12:4797600-4809800	Weak transcription	NHLF	lung
20	chr12:4797600-4810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:4797600-4810800	Weak transcription	HepG2	liver
22	chr12:4797800-4805800	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:4797800-4809600	Weak transcription	Fetal Brain Male	brain
24	chr12:4797800-4809800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:4797800-4809800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:4797800-4810200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:4797800-4810600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:4798000-4808000	Weak transcription	Psoas Muscle	Psoas
29	chr12:4798000-4809200	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:4798000-4809600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:4798000-4809800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:4798000-4809800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:4798000-4810000	Weak transcription	Ovary	ovary
34	chr12:4798000-4811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:4798000-4813400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:4798000-4814200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:4798200-4805400	Weak transcription	Placenta	Placenta
38	chr12:4798200-4805400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:4798200-4805600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:4798200-4806000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:4798200-4810800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:4798400-4805200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:4798400-4805400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:4798400-4809800	Weak transcription	Adipose Nuclei	Adipose
45	chr12:4798400-4817200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:4799200-4807200	Weak transcription	Brain Angular Gyrus	brain
47	chr12:4799200-4809800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:4799400-4805200	Weak transcription	Pancreas	Pancrea
49	chr12:4799400-4809000	Weak transcription	Thymus	Thymus
50	chr12:4799400-4809800	Weak transcription	H9 Cell Line	embryonic stem cell

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