Variant report

Variant	rs12191819
Chromosome Location	chr6:119254373-119254374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119213694..119219544-chr6:119251621..119258172,21	K562	blood:
2	chr6:119251278..119254603-chr6:119254723..119256647,5	MCF-7	breast:
3	chr6:119253156..119256806-chr6:119394976..119399977,7	K562	blood:
4	chr6:119213036..119217484-chr6:119254311..119257675,9	MCF-7	breast:
5	chr6:119242613..119249110-chr6:119251513..119257145,6	MCF-7	breast:
6	chr6:119230403..119232175-chr6:119251881..119254660,2	K562	blood:
7	chr6:119252974..119255408-chr6:119376994..119379902,2	K562	blood:
8	chr6:119214552..119219906-chr6:119253918..119257622,8	MCF-7	breast:
9	chr6:119253238..119258280-chr6:119398045..119402661,8	K562	blood:
10	chr6:119213105..119220728-chr6:119253299..119257962,22	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253194	Chromatin interaction
ENSG00000111877	Chromatin interaction
ENSG00000111875	Chromatin interaction
ENSG00000111879	Chromatin interaction
ENSG00000222649	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10080855	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10456919	0.80[EUR][1000 genomes]
rs1087453	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1087454	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1087455	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11153785	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189950	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs12190974	0.80[EUR][1000 genomes]
rs12191490	0.83[ASN][1000 genomes]
rs12194515	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195153	0.80[EUR][1000 genomes]
rs12195334	0.93[CHB][hapmap];0.87[CHD][hapmap]
rs12196440	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12197931	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200499	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203353	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12203542	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12204929	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs12206826	1.00[CHB][hapmap];0.96[CHD][hapmap];0.82[JPT][hapmap];0.80[MKK][hapmap];0.97[ASN][1000 genomes]
rs12210027	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12212179	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214434	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12216519	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1321836	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1342793	0.80[EUR][1000 genomes]
rs1407205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407206	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539434	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1775619	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.90[TSI][hapmap]
rs2051056	0.82[JPT][hapmap]
rs2051057	0.85[JPT][hapmap]
rs2295709	0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2357022	0.80[EUR][1000 genomes]
rs284914	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]
rs284915	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284916	0.83[ASN][1000 genomes]
rs284918	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs284920	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs376225	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3798594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798599	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs388987	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs409849	0.84[ASN][1000 genomes]
rs41292550	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292554	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946383	0.82[JPT][hapmap]
rs4946384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55810806	0.80[EUR][1000 genomes]
rs56794995	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56895036	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6910327	0.80[CHB][hapmap]
rs6910850	0.80[CHB][hapmap]
rs6935641	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937499	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs706971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs706978	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs706979	0.80[EUR][1000 genomes]
rs72966811	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72966851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72966873	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72966896	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72970448	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs768995	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745460	0.93[CHB][hapmap];0.87[CHD][hapmap]
rs794250	0.80[EUR][1000 genomes]
rs794252	0.80[EUR][1000 genomes]
rs794253	0.80[EUR][1000 genomes]
rs794254	0.80[EUR][1000 genomes]
rs794259	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs794606	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794608	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794611	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs794614	0.82[JPT][hapmap]
rs797002	0.80[EUR][1000 genomes]
rs797017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs811201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs811584	0.80[EUR][1000 genomes]
rs9320673	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9374757	0.80[ASN][1000 genomes]
rs9387609	0.80[ASN][1000 genomes]
rs9481862	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9481867	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481868	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481869	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481872	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481877	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9481878	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9489530	0.86[EUR][1000 genomes]
rs9489531	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9489535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489536	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489537	1.00[CHB][hapmap];0.96[CHD][hapmap];0.82[JPT][hapmap];0.80[MKK][hapmap];0.97[ASN][1000 genomes]
rs9489539	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489540	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489541	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9489543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489544	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489547	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs962393	0.80[CHB][hapmap]

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	esv16596	chr6:119251007-119272087	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv437523	chr6:119251971-119260280	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119219200-119254400	Strong transcription	Placenta	Placenta
2	chr6:119221200-119255800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:119222000-119254400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:119222000-119255200	Weak transcription	Fetal Heart	heart
5	chr6:119224800-119254800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:119226000-119255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:119227000-119254800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:119227800-119254800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:119235600-119255200	Weak transcription	Fetal Brain Male	brain
10	chr6:119235600-119255400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:119236600-119255200	Weak transcription	Right Ventricle	heart
12	chr6:119237000-119255200	Weak transcription	Brain Germinal Matrix	brain
13	chr6:119237000-119255200	Weak transcription	Gastric	stomach
14	chr6:119237200-119255200	Weak transcription	Brain Angular Gyrus	brain
15	chr6:119239800-119255200	Weak transcription	NHLF	lung
16	chr6:119240000-119255200	Weak transcription	Fetal Brain Female	brain
17	chr6:119241000-119254800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:119242600-119255200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:119242600-119255200	Weak transcription	Colonic Mucosa	Colon
20	chr6:119242800-119255800	Weak transcription	Spleen	Spleen
21	chr6:119243000-119255200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:119243400-119255200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:119243800-119254800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:119243800-119254800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:119244000-119255200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:119244000-119255400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:119244600-119255200	Weak transcription	Aorta	Aorta
28	chr6:119244800-119254800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:119245200-119254800	Weak transcription	Brain Substantia Nigra	brain
30	chr6:119245200-119255000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:119245200-119255000	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:119245200-119255000	Weak transcription	Fetal Kidney	kidney
33	chr6:119245200-119255000	Weak transcription	HUVEC	blood vessel
34	chr6:119245200-119255400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:119245400-119255000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:119245400-119255200	Weak transcription	Osteobl	bone
37	chr6:119245400-119255600	Weak transcription	Pancreas	Pancrea
38	chr6:119245600-119255600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:119245800-119255200	Weak transcription	Brain Anterior Caudate	brain
40	chr6:119246600-119255400	Weak transcription	Ovary	ovary
41	chr6:119246800-119254800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:119246800-119255200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:119246800-119255200	Weak transcription	Fetal Lung	lung
44	chr6:119247000-119255200	Weak transcription	NHEK	skin
45	chr6:119247600-119255000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:119249600-119255200	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:119249600-119255400	Weak transcription	Esophagus	oesophagus
48	chr6:119249800-119254800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:119249800-119255200	Weak transcription	Psoas Muscle	Psoas
50	chr6:119249800-119255400	Weak transcription	Left Ventricle	heart

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