Variant report

Variant	rs4543411
Chromosome Location	chr6:121583890-121583891
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:121577643..121580353-chr6:121583189..121585636,2	K562	blood:
2	chr6:121577028..121580353-chr6:121583189..121585636,3	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10499105	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782210	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964400	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968501	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970026	0.81[AFR][1000 genomes]
rs12523922	0.87[EUR][1000 genomes]
rs12524258	0.87[EUR][1000 genomes]
rs12524471	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12524754	0.87[EUR][1000 genomes]
rs12525057	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525337	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525794	0.87[EUR][1000 genomes]
rs12526158	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12526903	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527407	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527618	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527748	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529567	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529694	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12530424	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273757	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273759	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273760	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273766	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273772	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273774	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273775	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273776	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1314812	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1621008	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1697446	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083122	0.87[EUR][1000 genomes]
rs17083387	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083393	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083435	0.83[EUR][1000 genomes]
rs17083441	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1948733	0.82[AFR][1000 genomes]
rs2133993	0.87[EUR][1000 genomes]
rs2173837	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173838	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34349558	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245508	0.83[EUR][1000 genomes]
rs4257888	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4458731	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4466276	0.86[AFR][1000 genomes]
rs4483022	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527742	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585603	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945681	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945682	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4946540	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946546	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946548	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946564	0.83[EUR][1000 genomes]
rs55642029	0.83[AFR][1000 genomes]
rs59480217	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569179	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569182	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569183	0.86[AFR][1000 genomes]
rs6569184	0.87[AFR][1000 genomes]
rs6569194	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6907975	0.82[EUR][1000 genomes]
rs6912500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916425	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916773	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920459	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6930191	0.81[EUR][1000 genomes]
rs6933263	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6933489	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935039	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6941332	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706860	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73524557	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73526655	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73526665	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762977	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785401	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785403	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785404	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs810826	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs811484	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs813068	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs905026	0.80[AFR][1000 genomes]
rs9375015	0.87[AFR][1000 genomes]
rs9375017	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9385188	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9385191	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9387932	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830789	chr6:121581450-121732320	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121536600-121585400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:121536800-121584400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:121537000-121584600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:121541200-121585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:121567200-121588000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:121570600-121584600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:121573600-121584600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:121573800-121584200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr6:121573800-121584800	Weak transcription	Fetal Intestine Large	intestine
10	chr6:121573800-121586600	Weak transcription	Fetal Lung	lung
11	chr6:121573800-121587000	Weak transcription	Fetal Kidney	kidney
12	chr6:121575000-121606400	Weak transcription	NH-A	brain
13	chr6:121579600-121584800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:121580400-121584600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:121580400-121584600	Weak transcription	Brain Anterior Caudate	brain
16	chr6:121581000-121589200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:121581200-121588000	Weak transcription	Aorta	Aorta
18	chr6:121581400-121584800	Weak transcription	Fetal Brain Male	brain
19	chr6:121582000-121588400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:121582000-121589000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:121582200-121588000	Weak transcription	Pancreas	Pancrea
22	chr6:121582200-121603400	Weak transcription	HSMMtube	muscle
23	chr6:121582400-121584000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:121582400-121588000	Weak transcription	Placenta	Placenta
25	chr6:121582400-121588200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:121582400-121588400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:121582400-121590400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:121582600-121584200	Weak transcription	Lung	lung
29	chr6:121582600-121584600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:121582600-121587800	Weak transcription	Ovary	ovary
31	chr6:121582600-121588000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:121582600-121588400	Weak transcription	Gastric	stomach
33	chr6:121582600-121588400	Weak transcription	Left Ventricle	heart
34	chr6:121582800-121587800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:121582800-121587800	Weak transcription	Fetal Intestine Small	intestine
36	chr6:121582800-121588000	Weak transcription	Fetal Stomach	stomach
37	chr6:121583000-121584800	Weak transcription	Primary B cells from cord blood	blood
38	chr6:121583200-121584600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:121583600-121584000	Weak transcription	Dnd41	blood
40	chr6:121583800-121584200	Strong transcription	Primary T cells from cord blood	blood
41	chr6:121583800-121585200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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