Variant report

Variant	rs9385193
Chromosome Location	chr6:121591304-121591305
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11154014	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12209087	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1846865	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1891646	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1995313	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2038833	0.86[ASN][1000 genomes]
rs3956400	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4395765	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4412234	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4412244	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4461766	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4498397	0.84[ASN][1000 genomes]
rs4601176	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4946562	0.84[EUR][1000 genomes]
rs4946565	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6569197	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6569200	0.86[EUR][1000 genomes]
rs6903298	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6911380	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6916050	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6919890	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926502	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6928060	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6941235	0.84[ASN][1000 genomes]
rs7450632	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7768058	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7771881	0.82[AMR][1000 genomes]
rs9320799	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9320801	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9320805	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9320806	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9320807	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9320808	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9372652	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9375019	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9375021	0.80[EUR][1000 genomes]
rs9375022	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9387924	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9387929	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9387939	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9387942	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9398631	0.82[EUR][1000 genomes]
rs9401380	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9401382	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9401387	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9401388	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9482118	0.82[AMR][1000 genomes]
rs9482119	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9490184	0.81[ASN][1000 genomes]
rs9885676	0.84[ASN][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121575000-121606400	Weak transcription	NH-A	brain
2	chr6:121582200-121603400	Weak transcription	HSMMtube	muscle
3	chr6:121585400-121614200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:121585600-121625000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:121585800-121599000	Weak transcription	Primary B cells from cord blood	blood
6	chr6:121586400-121655000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:121586600-121613000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:121588200-121592000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:121588200-121616800	Weak transcription	Primary T cells from cord blood	blood
10	chr6:121588400-121655200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:121588600-121612000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:121588600-121617600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:121588800-121604000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:121588800-121642000	Weak transcription	Left Ventricle	heart
15	chr6:121589000-121596800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:121589000-121602600	Weak transcription	Liver	Liver
17	chr6:121589000-121632800	Weak transcription	Fetal Lung	lung
18	chr6:121589000-121635200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:121589000-121637600	Weak transcription	Ovary	ovary
20	chr6:121589000-121654200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:121589200-121591800	Weak transcription	Pancreas	Pancrea
22	chr6:121589200-121601400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:121589200-121605200	Weak transcription	Dnd41	blood
24	chr6:121589200-121622400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:121589200-121630000	Weak transcription	Fetal Intestine Large	intestine
26	chr6:121589200-121631800	Weak transcription	Fetal Intestine Small	intestine
27	chr6:121589200-121655000	Weak transcription	Fetal Stomach	stomach
28	chr6:121589400-121612400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:121589600-121615600	Weak transcription	Fetal Brain Female	brain
30	chr6:121589800-121596000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:121590200-121630800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:121590600-121596200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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