Variant report

Variant	rs284914
Chromosome Location	chr6:119135410-119135411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10080855	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1087453	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1087454	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1087455	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11153785	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12189950	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs12191490	0.91[ASN][1000 genomes]
rs12191819	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12194515	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12196440	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12197931	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12200499	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12203353	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12203542	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12204929	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs12206826	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs12210027	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12212179	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12214434	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12216519	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1321836	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1407205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1407206	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1539434	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1775619	0.84[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs2051056	0.82[JPT][hapmap]
rs2051057	0.85[JPT][hapmap]
rs2295709	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2797355	0.82[AMR][1000 genomes]
rs284915	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284916	0.91[ASN][1000 genomes]
rs284918	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs284920	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs376225	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798599	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs388987	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs409849	0.92[ASN][1000 genomes]
rs41292550	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41292554	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4946383	0.82[JPT][hapmap]
rs4946384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56794995	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56895036	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6910327	0.80[CHB][hapmap]
rs6910850	0.80[CHB][hapmap]
rs6935641	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6937499	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs706971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs706978	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs72966811	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72966851	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72966873	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72966896	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72970448	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs768995	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs768996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7745460	0.93[CHB][hapmap];0.82[CHD][hapmap]
rs794259	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs794606	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs794607	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs794608	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs794611	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs794614	0.82[JPT][hapmap]
rs797017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs811201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9320673	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9481862	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9481867	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9481868	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9481869	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9481870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9481871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9481872	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9481877	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9481878	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9489526	0.95[LWK][hapmap];0.91[YRI][hapmap]
rs9489530	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9489531	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9489535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9489536	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9489537	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs9489539	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9489540	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9489541	0.90[ASN][1000 genomes]
rs9489543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9489544	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9489547	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs962393	0.80[CHB][hapmap];0.95[LWK][hapmap];0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119108800-119136000	Weak transcription	Aorta	Aorta
2	chr6:119113800-119136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:119116600-119136200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:119121800-119136000	Weak transcription	Fetal Intestine Large	intestine
5	chr6:119122000-119136400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:119122000-119147000	Weak transcription	Stomach Mucosa	stomach
7	chr6:119122200-119136000	Weak transcription	Fetal Intestine Small	intestine
8	chr6:119122200-119136000	Weak transcription	Fetal Stomach	stomach
9	chr6:119122200-119136200	Weak transcription	Esophagus	oesophagus
10	chr6:119122200-119136600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:119122200-119147000	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:119122400-119136000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:119122400-119136000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:119122400-119136200	Weak transcription	Pancreas	Pancrea
15	chr6:119122400-119136200	Weak transcription	HepG2	liver
16	chr6:119122400-119136800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr6:119122400-119146800	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:119122600-119136200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:119122600-119144000	Weak transcription	Brain Angular Gyrus	brain
20	chr6:119125600-119136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:119125600-119143600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:119126200-119138800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:119128600-119151600	Weak transcription	Colonic Mucosa	Colon
24	chr6:119130200-119135600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:119130600-119135800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:119130600-119146400	Weak transcription	Psoas Muscle	Psoas
27	chr6:119130800-119135800	Weak transcription	Left Ventricle	heart
28	chr6:119130800-119136000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:119130800-119136000	Weak transcription	Lung	lung
30	chr6:119130800-119136200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:119130800-119143000	Weak transcription	Fetal Lung	lung
32	chr6:119131000-119136000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:119131000-119136200	Weak transcription	Ovary	ovary
34	chr6:119131000-119136400	Weak transcription	Spleen	Spleen
35	chr6:119131000-119137000	Weak transcription	K562	blood
36	chr6:119131800-119136600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:119132000-119136200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:119132000-119136200	Weak transcription	Gastric	stomach
39	chr6:119132000-119136400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:119132000-119136400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:119132000-119137000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:119132200-119135600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr6:119132200-119135800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:119132200-119135800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:119132200-119136000	Weak transcription	Primary T cells from cord blood	blood
46	chr6:119132200-119136000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr6:119132200-119136000	Weak transcription	HSMMtube	muscle
48	chr6:119132200-119136200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr6:119132200-119136400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:119132200-119136400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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