Variant report

Variant	rs8191912
Chromosome Location	chr6:160504784-160504785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10080371	1.00[EUR][1000 genomes]
rs10945650	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs1116262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1963529	0.87[AMR][1000 genomes]
rs2230044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282137	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2282143	1.00[EUR][1000 genomes]
rs2297359	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297360	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297361	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2777355	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28691144	0.93[ASN][1000 genomes]
rs3777401	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777406	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3798170	1.00[EUR][1000 genomes]
rs3798175	1.00[EUR][1000 genomes]
rs6911252	0.81[CHB][hapmap];1.00[EUR][1000 genomes]
rs6925867	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73598455	1.00[EUR][1000 genomes]
rs8191855	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8191893	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8191921	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8191959	0.90[CHB][hapmap];1.00[EUR][1000 genomes]
rs9456502	1.00[EUR][1000 genomes]
rs9457816	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9457829	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457834	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457839	0.81[CHB][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160444200-160521600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:160453000-160534600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:160455800-160532000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:160459600-160519200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:160460800-160520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:160460800-160520200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:160464400-160519800	Strong transcription	Lung	lung
8	chr6:160464600-160531800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:160465600-160530800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:160466000-160521000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:160474200-160519600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:160474200-160519800	Strong transcription	Fetal Stomach	stomach
13	chr6:160474400-160520600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:160474800-160509200	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr6:160474800-160509400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:160477200-160531200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:160477200-160531400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:160480200-160510600	Strong transcription	Fetal Intestine Large	intestine
19	chr6:160485000-160512600	Weak transcription	Right Atrium	heart
20	chr6:160485800-160522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:160487600-160509400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:160487600-160520000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:160487600-160530800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:160487800-160509000	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:160487800-160509200	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:160487800-160509400	Strong transcription	Brain Hippocampus Middle	brain
27	chr6:160487800-160515600	Strong transcription	Right Ventricle	heart
28	chr6:160487800-160519200	Strong transcription	Esophagus	oesophagus
29	chr6:160487800-160519400	Strong transcription	Gastric	stomach
30	chr6:160487800-160519800	Strong transcription	Ovary	ovary
31	chr6:160487800-160519800	Strong transcription	Pancreas	Pancrea
32	chr6:160487800-160520200	Strong transcription	Adipose Nuclei	Adipose
33	chr6:160488000-160509200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr6:160488600-160508200	Strong transcription	Fetal Brain Female	brain
35	chr6:160488800-160509000	Strong transcription	Fetal Muscle Leg	muscle
36	chr6:160490200-160531400	Strong transcription	Dnd41	blood
37	chr6:160490400-160521200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:160490600-160510600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr6:160490600-160519800	Strong transcription	Spleen	Spleen
40	chr6:160490600-160521000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:160490600-160521200	Strong transcription	Thymus	Thymus
42	chr6:160490800-160521400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr6:160491000-160518200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr6:160491000-160519600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr6:160491200-160517800	Weak transcription	HUVEC	blood vessel
46	chr6:160491200-160519200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:160491200-160520200	Strong transcription	Primary T cells from cord blood	blood
48	chr6:160491200-160520400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:160491200-160531400	Strong transcription	Fetal Thymus	thymus
50	chr6:160491800-160510000	Strong transcription	Duodenum Mucosa	Duodenum

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