Variant report

Variant	rs73538413
Chromosome Location	chr6:121447305-121447306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1273710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273711	1.00[ASN][1000 genomes]
rs1273712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1273729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273749	1.00[ASN][1000 genomes]
rs1273750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273754	1.00[ASN][1000 genomes]
rs1273768	0.81[ASN][1000 genomes]
rs1273769	0.81[ASN][1000 genomes]
rs1273770	0.81[ASN][1000 genomes]
rs1290677	0.97[ASN][1000 genomes]
rs1314810	1.00[ASN][1000 genomes]
rs1632545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083119	0.92[ASN][1000 genomes]
rs17083169	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17083281	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1776811	0.81[ASN][1000 genomes]
rs2088834	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs218864	0.92[ASN][1000 genomes]
rs218865	0.92[ASN][1000 genomes]
rs218866	0.92[ASN][1000 genomes]
rs2651528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2797954	1.00[ASN][1000 genomes]
rs394714	0.92[ASN][1000 genomes]
rs402296	0.92[ASN][1000 genomes]
rs432721	0.92[ASN][1000 genomes]
rs56790796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57151972	1.00[ASN][1000 genomes]
rs57491732	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57819930	1.00[EUR][1000 genomes]
rs59569667	1.00[EUR][1000 genomes]
rs61449799	1.00[EUR][1000 genomes]
rs6935956	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73524575	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73524585	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73526664	1.00[EUR][1000 genomes]
rs73528503	1.00[EUR][1000 genomes]
rs73536423	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73536447	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73540503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73540546	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs785402	0.81[ASN][1000 genomes]
rs9482125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9490141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9490142	1.00[AMR][1000 genomes];1.00[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	esv1812259	chr6:121404112-121451095	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121429600-121455600	Weak transcription	Brain Substantia Nigra	brain
2	chr6:121441800-121447600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:121442000-121447600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:121443400-121447800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:121444000-121448200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:121445000-121447600	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr6:121445200-121447600	ZNF genes & repeats	Dnd41	blood
8	chr6:121445400-121447400	ZNF genes & repeats	Liver	Liver
9	chr6:121445600-121447400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:121445600-121447400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
11	chr6:121446200-121447400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:121446200-121447400	ZNF genes & repeats	Brain Anterior Caudate	brain
13	chr6:121446200-121447400	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr6:121446200-121447600	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr6:121446200-121447600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
16	chr6:121446600-121447800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:121446800-121447400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr6:121446800-121447400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr6:121446800-121447600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr6:121446800-121447800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:121446800-121448000	Weak transcription	HSMM	muscle
22	chr6:121446800-121449000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:121446800-121464600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:121447000-121447600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:121447000-121447600	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:121447000-121447600	Weak transcription	Gastric	stomach
27	chr6:121447000-121447800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:121447000-121448000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:121447000-121448200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:121447000-121448200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:121447000-121448200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:121447000-121448800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:121447000-121448800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:121447000-121450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:121447000-121451000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:121447000-121455600	Weak transcription	Aorta	Aorta
37	chr6:121447000-121463200	Weak transcription	Ovary	ovary
38	chr6:121447200-121447400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
39	chr6:121447200-121447400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr6:121447200-121447600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:121447200-121447600	Weak transcription	Pancreas	Pancrea
42	chr6:121447200-121447600	Weak transcription	Osteobl	bone
43	chr6:121447200-121447800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:121447200-121448200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:121447200-121448200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:121447200-121448400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:121447200-121448600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:121447200-121448800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr6:121447200-121448800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr6:121447200-121450600	Weak transcription	Fetal Stomach	stomach

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