Variant report

Variant	rs4766272
Chromosome Location	chr12:4787821-4787822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4787798..4788507-chr18:9825134..9825912,2	Hela-S3	cervix:

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10047570	0.82[ASN][1000 genomes]
rs10082907	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10083146	0.98[ASN][1000 genomes]
rs10083152	0.96[ASN][1000 genomes]
rs1009633	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10160902	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1024655	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774256	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10774259	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10774260	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774267	0.81[CHB][hapmap]
rs10849125	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10849126	0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs10849127	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs10849129	0.82[ASN][1000 genomes]
rs10849130	0.91[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs10849131	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs10849133	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];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];0.82[ASN][1000 genomes]
rs11063318	0.82[ASN][1000 genomes]
rs12296205	0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs1468556	0.90[CHB][hapmap];0.95[CHD][hapmap]
rs17783373	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1990310	0.98[ASN][1000 genomes]
rs2109099	0.91[ASN][1000 genomes]
rs2109100	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2159354	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2159355	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2191157	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap]
rs2240761	0.88[ASN][1000 genomes]
rs2240762	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2267552	0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs2286578	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2286580	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap]
rs2286581	0.81[CHB][hapmap];0.88[CHD][hapmap]
rs2286582	0.81[CHB][hapmap];0.88[CHD][hapmap]
rs2302244	0.89[ASN][1000 genomes]
rs2359466	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs2359467	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap]
rs35049745	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3782740	0.90[CHB][hapmap];0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs3782741	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs3782742	0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4147689	0.84[ASN][1000 genomes]
rs4147696	0.98[ASN][1000 genomes]
rs4765779	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4765780	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4765781	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4765782	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766270	0.81[EUR][1000 genomes]
rs4766276	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4766278	0.91[ASN][1000 genomes]
rs4766279	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4766280	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4766281	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4766282	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4766283	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4766286	0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap]
rs6489558	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6489560	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs7132030	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs7136382	0.93[ASN][1000 genomes]
rs7136583	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137040	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137660	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7305525	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap]
rs7306235	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7311475	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7311675	0.95[CHB][hapmap]
rs7311694	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs7312119	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7315211	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs7316209	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs7953170	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7953399	0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap]
rs7966628	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7967117	0.81[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap]
rs7972019	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7972501	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7975978	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs9300304	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[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	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
2	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4766272	WNK1	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4759000-4799400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:4773800-4794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:4778800-4794400	Weak transcription	Small Intestine	intestine
4	chr12:4778800-4796000	Weak transcription	NHEK	skin
5	chr12:4779000-4792600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:4779000-4799000	Weak transcription	Stomach Mucosa	stomach
7	chr12:4779400-4791400	Weak transcription	Hela-S3	cervix
8	chr12:4779600-4801800	Weak transcription	K562	blood
9	chr12:4779800-4791400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:4780200-4792000	Weak transcription	NHLF	lung
11	chr12:4780200-4792600	Weak transcription	Fetal Brain Male	brain
12	chr12:4780200-4809200	Weak transcription	Fetal Heart	heart
13	chr12:4780400-4791000	Weak transcription	HMEC	breast
14	chr12:4780400-4791400	Weak transcription	HSMMtube	muscle
15	chr12:4780400-4792600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:4780600-4791400	Weak transcription	Primary B cells from cord blood	blood
17	chr12:4780600-4799000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:4780800-4788800	Weak transcription	HepG2	liver
19	chr12:4781200-4788800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:4781200-4789000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:4781200-4791000	Weak transcription	GM12878-XiMat	blood
22	chr12:4781200-4791400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:4781200-4791400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:4781200-4791400	Weak transcription	HSMM	muscle
25	chr12:4781200-4791400	Weak transcription	Osteobl	bone
26	chr12:4781200-4792400	Weak transcription	A549	lung
27	chr12:4781200-4794800	Weak transcription	NH-A	brain
28	chr12:4781400-4789000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:4781400-4791000	Weak transcription	NHDF-Ad	bronchial
30	chr12:4781400-4791600	Weak transcription	Brain Substantia Nigra	brain
31	chr12:4781400-4794600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:4781600-4788200	Weak transcription	Dnd41	blood
33	chr12:4781600-4791000	Weak transcription	HUVEC	blood vessel
34	chr12:4781600-4791400	Weak transcription	Brain Anterior Caudate	brain
35	chr12:4781800-4791200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:4781800-4791400	Weak transcription	Fetal Thymus	thymus
37	chr12:4782000-4791000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:4782000-4791400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:4782000-4791600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:4782000-4796800	Weak transcription	Fetal Kidney	kidney
41	chr12:4782200-4788800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:4782200-4789600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:4782200-4789800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:4782200-4791200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:4782200-4791200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:4782200-4791200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:4782200-4791200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:4782200-4791200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:4782200-4791200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr12:4782200-4791400	Weak transcription	Primary B cells from peripheral blood	blood

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