Variant report

Variant	rs2322633
Chromosome Location	chr6:80845989-80845990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10080237	0.92[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10080500	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1015158	0.85[CEU][hapmap]
rs10455370	0.83[MEX][hapmap]
rs10806185	0.85[CEU][hapmap]
rs10943694	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10943696	0.90[CEU][hapmap]
rs10943698	0.86[ASN][1000 genomes]
rs10943699	0.88[CEU][hapmap]
rs11962614	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs12203867	0.81[AMR][1000 genomes]
rs12208016	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12209624	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs12209988	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1324120	0.85[CEU][hapmap]
rs1324123	0.92[CEU][hapmap]
rs1359239	0.88[CEU][hapmap];0.90[CHB][hapmap]
rs1408292	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs1535825	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1575541	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1892475	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs2179842	0.88[CEU][hapmap];0.91[MEX][hapmap]
rs2256531	0.95[CHB][hapmap];0.81[CHD][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs2298307	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2322630	0.83[AMR][1000 genomes]
rs2322631	0.92[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2322632	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs2322635	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.89[ASN][1000 genomes]
rs2476826	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.90[ASN][1000 genomes]
rs2490234	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2490239	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.92[ASN][1000 genomes]
rs2490241	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs2490244	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2490245	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[MEX][hapmap];0.86[ASN][1000 genomes]
rs2490250	0.89[ASN][1000 genomes]
rs2490251	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.89[ASN][1000 genomes]
rs2505927	0.90[ASN][1000 genomes]
rs2505929	0.92[ASN][1000 genomes]
rs2505932	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs2505935	0.95[ASN][1000 genomes]
rs2505939	0.95[ASN][1000 genomes]
rs2505940	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs2505942	0.87[ASN][1000 genomes]
rs2505944	0.89[ASN][1000 genomes]
rs2874829	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35355485	0.81[AMR][1000 genomes]
rs3793000	0.83[CEU][hapmap]
rs3805885	0.84[CEU][hapmap];0.91[MEX][hapmap]
rs3805903	0.88[CEU][hapmap];0.95[CHB][hapmap]
rs3805907	0.85[CEU][hapmap];0.91[MEX][hapmap]
rs3805911	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.86[ASN][1000 genomes]
rs3805913	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.87[ASN][1000 genomes]
rs3805919	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs3805922	0.92[CEU][hapmap]
rs3805926	0.92[CEU][hapmap]
rs3812121	0.88[CEU][hapmap];0.95[MEX][hapmap]
rs3812126	0.85[CEU][hapmap];0.91[MEX][hapmap]
rs3828753	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.87[ASN][1000 genomes]
rs3828754	0.92[CEU][hapmap]
rs4256394	0.88[ASN][1000 genomes]
rs4437429	0.92[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes]
rs4706113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4706831	0.88[CEU][hapmap]
rs4706834	0.85[CEU][hapmap];0.91[MEX][hapmap]
rs583426	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs590641	0.95[CHB][hapmap];0.87[CHD][hapmap]
rs627240	0.86[MEX][hapmap]
rs684251	0.95[CHB][hapmap]
rs684283	0.95[CHB][hapmap]
rs688867	1.00[CHB][hapmap];0.84[CHD][hapmap];0.80[JPT][hapmap];0.87[MEX][hapmap]
rs6907729	0.85[CEU][hapmap];0.91[MEX][hapmap]
rs6909546	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6916405	0.84[CEU][hapmap]
rs6916507	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6930534	0.87[CEU][hapmap]
rs6938280	0.89[ASN][1000 genomes]
rs742833	0.87[ASN][1000 genomes]
rs7453746	0.82[MEX][hapmap]
rs7741013	0.85[ASN][1000 genomes]
rs7745301	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs7746917	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7771449	0.92[CEU][hapmap]
rs806783	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs910266	0.92[CEU][hapmap]
rs9294170	0.84[CEU][hapmap]
rs9294171	0.92[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9294172	1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs9294173	0.88[CEU][hapmap]
rs9341808	0.80[EUR][1000 genomes]
rs9341811	0.85[CEU][hapmap]
rs9343971	0.92[CEU][hapmap]
rs9343974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9343977	0.84[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs9343978	0.85[CEU][hapmap]
rs9350846	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9352801	0.92[CEU][hapmap]
rs9352803	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9352806	0.85[CEU][hapmap]
rs9352809	0.84[CEU][hapmap]
rs9352817	0.88[CEU][hapmap]
rs9359408	0.96[CEU][hapmap];0.81[AMR][1000 genomes]
rs9359409	0.92[CEU][hapmap];0.81[AMR][1000 genomes]
rs9361584	0.81[AMR][1000 genomes]
rs9361587	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs942381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9443734	0.81[AMR][1000 genomes]
rs9448886	0.81[AMR][1000 genomes]
rs9448893	0.83[AMR][1000 genomes]
rs9448897	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9448898	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9448899	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9448911	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.87[ASN][1000 genomes]
rs978814	0.85[CEU][hapmap];0.91[MEX][hapmap]

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	nsv830708	chr6:80844283-80996876	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Height	23563607	GWAS catalog

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80817000-80852800	Weak transcription	Psoas Muscle	Psoas
2	chr6:80818000-80861400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:80818000-80866000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:80829400-80852000	Weak transcription	Fetal Stomach	stomach
5	chr6:80836200-80852800	Weak transcription	Right Ventricle	heart
6	chr6:80836400-80855800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr6:80836400-80863000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:80836400-80891200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:80836600-80846800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:80836600-80852800	Weak transcription	Pancreas	Pancrea
11	chr6:80836800-80846000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:80837000-80852600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:80837000-80853000	Weak transcription	Fetal Kidney	kidney
14	chr6:80837000-80895200	Weak transcription	Fetal Intestine Small	intestine
15	chr6:80837400-80854200	Weak transcription	Brain Substantia Nigra	brain
16	chr6:80837600-80853000	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:80838000-80846800	Strong transcription	Liver	Liver
18	chr6:80838400-80852800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:80838400-80853400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:80838600-80852800	Weak transcription	Aorta	Aorta
21	chr6:80838600-80857400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:80838600-80873200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:80838800-80846400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:80838800-80852000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:80838800-80852000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:80838800-80852000	Weak transcription	NHDF-Ad	bronchial
27	chr6:80838800-80852200	Weak transcription	NH-A	brain
28	chr6:80838800-80852400	Weak transcription	HSMMtube	muscle
29	chr6:80838800-80852600	Weak transcription	NHLF	lung
30	chr6:80838800-80853200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:80839200-80873200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:80839200-80889600	Weak transcription	Lung	lung
33	chr6:80839600-80852800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:80839600-80857600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:80839600-80859600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:80840000-80852000	Weak transcription	Fetal Lung	lung
37	chr6:80840000-80860800	Weak transcription	Fetal Intestine Large	intestine
38	chr6:80840200-80855000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:80841000-80847400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:80841000-80852400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:80841000-80852800	Weak transcription	Colonic Mucosa	Colon
42	chr6:80841000-80859200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:80841000-80860800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr6:80841200-80852000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:80841200-80852000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:80841200-80852800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:80841200-80852800	Weak transcription	HMEC	breast
48	chr6:80841200-80853200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:80841200-80854600	Weak transcription	Ovary	ovary
50	chr6:80841200-80855600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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