Variant report

Variant	rs35607421
Chromosome Location	chr12:11037426-11037427
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	chr12:11032826..11034355-chr12:11037300..11039401,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 29 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1013313	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1015442	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1015443	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10492098	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10492099	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1063193	0.88[ASN][1000 genomes]
rs10743928	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743932	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743933	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743934	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10743935	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1076443	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772372	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772373	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772374	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772375	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772376	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772377	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772378	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772379	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772381	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10772382	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10772384	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10772385	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10772386	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10772387	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10772389	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10772390	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10845221	0.85[ASN][1000 genomes]
rs10845226	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845227	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845228	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845229	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845230	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845231	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10845232	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10845233	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10845234	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10845235	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10845236	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10845237	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10845238	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10845239	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10845240	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10845241	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10845242	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10845243	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10845244	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10845246	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10845248	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11054056	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054060	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054063	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11054066	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11054068	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11054073	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11054075	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11054076	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11054077	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11054078	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1520226	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520227	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1607695	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2052179	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2110093	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2110094	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2110095	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2110099	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110100	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159902	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298864	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298865	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298866	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2418216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2418217	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2418219	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2418220	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2418221	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2418222	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3741844	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851579	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3851580	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851581	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3851584	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3863320	0.90[ASN][1000 genomes]
rs4360779	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4763219	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763221	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4763222	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4763223	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4763587	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4763588	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763589	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4763590	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4763591	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4763592	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4763601	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6488330	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs718109	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs718111	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7296003	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299223	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7314847	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486068	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7956204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956586	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7968647	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7968736	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7969080	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7976610	0.86[ASN][1000 genomes]
rs7978678	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9668593	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9669144	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[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	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:29)

SNP	Gene	Cis/trans	Tissue	Source
rs35607421	PRR4	cis	Esophagus Muscularis	GTEx
rs35607421	RP11-434C1.1	cis	Adipose Subcutaneous	GTEx
rs35607421	TAS2R20	cis	Muscle Skeletal	GTEx
rs35607421	RP11-434C1.1	cis	Esophagus Muscularis	GTEx
rs35607421	RP11-434C1.1	cis	lung	GTEx
rs35607421	PRR4	cis	Thyroid	GTEx
rs35607421	TAS2R14	cis	Esophagus Muscularis	GTEx
rs35607421	PRR4	cis	multi-tissue	Pritchard
rs35607421	TAS2R14	cis	Artery Tibial	GTEx
rs35607421	TAS2R20	cis	Nerve Tibial	GTEx
rs35607421	TAS2R14	cis	Esophagus Mucosa	GTEx
rs35607421	TAS2R20	cis	Esophagus Muscularis	GTEx
rs35607421	PRR4	cis	Adipose Subcutaneous	GTEx
rs35607421	RP11-434C1.1	cis	Muscle Skeletal	GTEx
rs35607421	PRR4	cis	Heart Left Ventricle	GTEx
rs35607421	TAS2R20	cis	lung	GTEx
rs35607421	PRR4	cis	Nerve Tibial	GTEx
rs35607421	PRR4	cis	Muscle Skeletal	GTEx
rs35607421	TAS2R20	cis	Skin Sun Exposed Lower leg	GTEx
rs35607421	TAS2R14	cis	Nerve Tibial	GTEx
rs35607421	RP11-434C1.1	cis	Heart Left Ventricle	GTEx
rs35607421	PRR4	cis	Stomach	GTEx
rs35607421	PRR4	cis	lung	GTEx
rs35607421	PRR4	cis	Artery Tibial	GTEx
rs35607421	TAS2R20	cis	Artery Tibial	GTEx
rs35607421	PRR4	cis	Whole Blood	GTEx
rs35607421	RP11-434C1.1	cis	Thyroid	GTEx
rs35607421	RP11-434C1.1	cis	Artery Tibial	GTEx
rs35607421	RP11-785H5.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11007000-11038800	Weak transcription	Psoas Muscle	Psoas
2	chr12:11007200-11039400	Weak transcription	Right Ventricle	heart
3	chr12:11009200-11045800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:11012200-11051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:11012200-11055800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:11012200-11056200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:11014400-11043400	Weak transcription	Fetal Intestine Small	intestine
8	chr12:11014400-11052000	Weak transcription	Fetal Brain Male	brain
9	chr12:11020200-11045400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:11024800-11037600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:11026000-11045800	Weak transcription	Brain Germinal Matrix	brain
12	chr12:11026400-11043600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:11028400-11053400	Weak transcription	Brain Substantia Nigra	brain
14	chr12:11028600-11038800	Weak transcription	Spleen	Spleen
15	chr12:11028600-11039200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:11029200-11053200	Weak transcription	Fetal Brain Female	brain
17	chr12:11029600-11040600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:11030600-11038800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:11030600-11038800	Weak transcription	Lung	lung
20	chr12:11030600-11044200	Weak transcription	Gastric	stomach
21	chr12:11030600-11044400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:11030600-11044600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:11030600-11045800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:11030600-11046000	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:11030600-11051200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:11030600-11053400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:11030600-11053400	Weak transcription	Esophagus	oesophagus
28	chr12:11030600-11054200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:11030800-11040800	Weak transcription	HSMMtube	muscle
30	chr12:11030800-11043200	Weak transcription	Liver	Liver
31	chr12:11031000-11038800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:11031000-11043000	Weak transcription	Fetal Intestine Large	intestine
33	chr12:11031000-11044200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:11031000-11049400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr12:11031000-11053200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:11031000-11055000	Weak transcription	Primary B cells from cord blood	blood
37	chr12:11031200-11041400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:11031200-11041400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:11031200-11044600	Weak transcription	Pancreas	Pancrea
40	chr12:11031600-11045400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:11032000-11038800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:11032000-11053800	Weak transcription	Dnd41	blood
43	chr12:11033800-11038600	Weak transcription	Left Ventricle	heart
44	chr12:11033800-11101600	Weak transcription	Ovary	ovary
45	chr12:11034000-11038800	Weak transcription	HUVEC	blood vessel
46	chr12:11034200-11046200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:11034600-11043400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:11034600-11052000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:11034600-11059000	Weak transcription	Fetal Heart	heart
50	chr12:11034800-11044400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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