Variant report

Variant	rs56927912
Chromosome Location	chr6:121572193-121572194
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1273719	0.94[ASN][1000 genomes]
rs17083186	0.94[ASN][1000 genomes]
rs17083373	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083415	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083440	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17154	1.00[ASN][1000 genomes]
rs2133990	1.00[ASN][1000 genomes]
rs2186097	0.97[ASN][1000 genomes]
rs2892765	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072142	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132315	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4305755	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371872	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584021	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55731091	0.94[ASN][1000 genomes]
rs55799213	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55975505	0.83[AFR][1000 genomes]
rs55983388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56000113	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58124381	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61047660	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61293964	1.00[ASN][1000 genomes]
rs6903467	1.00[ASN][1000 genomes]
rs6919916	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6920055	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920884	0.97[ASN][1000 genomes]
rs6925413	1.00[ASN][1000 genomes]
rs6941089	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73526695	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73528541	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73768932	1.00[ASN][1000 genomes]
rs73768938	1.00[ASN][1000 genomes]
rs7451033	1.00[ASN][1000 genomes]
rs7741356	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742071	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743455	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744891	1.00[ASN][1000 genomes]
rs7749984	1.00[ASN][1000 genomes]
rs7751636	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7755977	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757350	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7759798	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761551	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765795	1.00[ASN][1000 genomes]
rs7767417	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768813	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7769067	0.94[ASN][1000 genomes]
rs9490148	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121509600-121575400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:121536600-121585400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:121536800-121584400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:121537000-121584600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:121541200-121585000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:121544400-121581600	Weak transcription	HSMM	muscle
7	chr6:121544800-121581400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:121556600-121581800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:121556800-121581600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:121566000-121575600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:121566600-121581600	Weak transcription	Gastric	stomach
12	chr6:121566800-121581600	Weak transcription	Ovary	ovary
13	chr6:121567000-121577400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:121567000-121581600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:121567200-121573600	Weak transcription	Lung	lung
16	chr6:121567200-121588000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:121567800-121573600	Weak transcription	Fetal Intestine Small	intestine
18	chr6:121567800-121581800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:121568600-121581000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:121568600-121581600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:121568800-121582000	Weak transcription	Dnd41	blood
22	chr6:121570600-121584600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:121571200-121582600	Weak transcription	Primary B cells from cord blood	blood
24	chr6:121571600-121583800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:121572000-121572200	Strong transcription	Primary T cells from cord blood	blood

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