Variant report

Variant	rs12211528
Chromosome Location	chr6:36510627-36510628
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	chr6:36510007..36526277-chr6:36558145..36566762,35	K562	blood:

Variant related genes	Relation type
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1003249	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10484615	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10947607	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10947608	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10947611	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1137628	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11755264	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11756413	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11757842	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11759996	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1191	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12110954	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12190062	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12209196	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1358981	0.82[EUR][1000 genomes]
rs1535510	0.83[EUR][1000 genomes]
rs16888552	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16888690	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1983781	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1985423	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2007741	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2071810	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2146333	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2180929	0.83[EUR][1000 genomes]
rs2187827	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2239807	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2239808	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2267925	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2267926	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2267927	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2267928	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267929	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2267931	0.84[EUR][1000 genomes]
rs2267932	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2300064	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2894407	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3752479	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3756911	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3756912	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3778019	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798470	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798472	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798473	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798474	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3819760	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3822970	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4598	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55829962	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56086408	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56763433	0.83[EUR][1000 genomes]
rs57423505	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57646047	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58093537	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59104483	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59955083	0.81[EUR][1000 genomes]
rs60043926	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6457920	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6457921	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6457923	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6457928	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6457929	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67018593	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67640018	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6899372	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6899421	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6899631	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6902076	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6902473	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6905347	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6905686	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6911877	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6912117	0.81[EUR][1000 genomes]
rs6912982	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6913613	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6913693	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6913714	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6917951	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6917981	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6920166	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6926522	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6926796	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6927896	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6928087	0.85[EUR][1000 genomes]
rs6930496	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6936942	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6939445	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6941593	0.83[EUR][1000 genomes]
rs73411055	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73413258	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73413267	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7738604	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7742459	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7745411	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7749358	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7752714	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7754363	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7763089	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7769765	0.83[EUR][1000 genomes]
rs7771028	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7772524	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7772800	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs933236	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9462185	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9462186	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9462190	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9462193	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9470273	0.81[EUR][1000 genomes]
rs9470280	0.83[EUR][1000 genomes]
rs9470289	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9470291	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9470293	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9470294	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9470295	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9470296	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9470297	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9470300	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9470302	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9470304	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9767243	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9767778	0.86[EUR][1000 genomes];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	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
2	nsv5260	chr6:36471464-36516119	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12211528	KCTD20	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36456400-36512600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:36463800-36513600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:36476800-36512200	Weak transcription	Brain Angular Gyrus	brain
4	chr6:36478400-36513600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:36478400-36514000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:36478800-36512400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:36479600-36514400	Weak transcription	Spleen	Spleen
8	chr6:36481400-36512000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:36484600-36514000	Weak transcription	Pancreas	Pancrea
10	chr6:36484800-36512400	Weak transcription	Right Atrium	heart
11	chr6:36488800-36513800	Weak transcription	Aorta	Aorta
12	chr6:36491800-36512400	Weak transcription	Small Intestine	intestine
13	chr6:36492400-36514000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:36492800-36511200	Weak transcription	Colonic Mucosa	Colon
15	chr6:36494000-36512000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:36494400-36512000	Weak transcription	NHEK	skin
17	chr6:36494400-36512400	Weak transcription	Esophagus	oesophagus
18	chr6:36496000-36513400	Weak transcription	Psoas Muscle	Psoas
19	chr6:36496200-36514200	Weak transcription	Gastric	stomach
20	chr6:36496600-36511400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:36497600-36512400	Weak transcription	Right Ventricle	heart
22	chr6:36497800-36511200	Strong transcription	Fetal Intestine Small	intestine
23	chr6:36500000-36514000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:36501800-36511200	Weak transcription	Ovary	ovary
25	chr6:36502000-36511800	Weak transcription	A549	lung
26	chr6:36503800-36511200	Weak transcription	Stomach Mucosa	stomach
27	chr6:36505600-36511200	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr6:36505600-36511800	Strong transcription	Fetal Intestine Large	intestine
29	chr6:36506200-36512400	Weak transcription	Lung	lung
30	chr6:36507200-36510800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:36507600-36512000	Weak transcription	Brain Germinal Matrix	brain
32	chr6:36508000-36512000	Weak transcription	Fetal Kidney	kidney
33	chr6:36508000-36512200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:36508000-36513400	Weak transcription	Brain Anterior Caudate	brain
35	chr6:36508000-36513600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:36508000-36513600	Weak transcription	Brain Substantia Nigra	brain
37	chr6:36508200-36511200	Weak transcription	Fetal Brain Male	brain
38	chr6:36508200-36511200	Weak transcription	NHDF-Ad	bronchial
39	chr6:36508200-36511400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:36508200-36511400	Weak transcription	HSMMtube	muscle
41	chr6:36508200-36512000	Weak transcription	Fetal Lung	lung
42	chr6:36508200-36512200	Genic enhancers	Dnd41	blood
43	chr6:36508200-36512200	Weak transcription	HMEC	breast
44	chr6:36508200-36512400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:36508200-36512400	Weak transcription	HUVEC	blood vessel
46	chr6:36508200-36513600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:36508400-36511200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:36508400-36511200	Weak transcription	Adipose Nuclei	Adipose
49	chr6:36508400-36511400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:36508400-36512000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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