Variant report

Variant	rs982647
Chromosome Location	chr6:118240685-118240686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10499084	0.84[MEX][hapmap]
rs11153710	0.87[CHB][hapmap]
rs1160428	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11754631	0.81[CHB][hapmap]
rs1323101	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1338968	0.95[CEU][hapmap]
rs1338974	0.92[CHB][hapmap]
rs1361288	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416416	0.84[CEU][hapmap]
rs1416417	0.87[CHB][hapmap]
rs1416419	0.84[CEU][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs1416420	0.84[CEU][hapmap]
rs1416421	0.84[CEU][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs1416422	0.83[CEU][hapmap];0.83[TSI][hapmap]
rs1538455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1570447	0.84[CEU][hapmap]
rs1980748	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1998458	0.84[CEU][hapmap];0.83[TSI][hapmap]
rs2211098	0.82[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2760240	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2789010	0.84[CEU][hapmap];0.83[TSI][hapmap]
rs2789013	0.84[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6568991	0.84[CEU][hapmap]
rs6903073	0.84[CEU][hapmap]
rs6935834	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7738597	0.87[CHB][hapmap];0.80[CHD][hapmap]
rs7775647	0.84[CEU][hapmap]
rs912088	0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap]
rs9374691	0.83[CEU][hapmap]
rs9401037	0.80[ASN][1000 genomes]
rs959714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv522455	chr6:118228527-118240685	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118229800-118241400	Weak transcription	Gastric	stomach
2	chr6:118239600-118241000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
3	chr6:118240000-118241200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:118240200-118240800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
5	chr6:118240200-118240800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:118240200-118240800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:118240400-118240800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:118240400-118240800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:118240400-118240800	Enhancers	Fetal Stomach	stomach
10	chr6:118240400-118241000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:118240400-118241000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:118240400-118241200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr6:118240400-118241200	Active TSS	Fetal Brain Female	brain
14	chr6:118240400-118241800	Active TSS	Brain Cingulate Gyrus	brain
15	chr6:118240600-118240800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:118240600-118240800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr6:118240600-118240800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
18	chr6:118240600-118240800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr6:118240600-118240800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr6:118240600-118240800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:118240600-118240800	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr6:118240600-118240800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
23	chr6:118240600-118240800	Enhancers	Ovary	ovary
24	chr6:118240600-118240800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
25	chr6:118240600-118240800	Enhancers	Right Atrium	heart
26	chr6:118240600-118241000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr6:118240600-118241000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr6:118240600-118241000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:118240600-118241000	Enhancers	Brain Substantia Nigra	brain
30	chr6:118240600-118241000	Enhancers	Fetal Brain Male	brain
31	chr6:118240600-118241000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr6:118240600-118241000	Bivalent Enhancer	Left Ventricle	heart
33	chr6:118240600-118241000	Enhancers	Right Ventricle	heart
34	chr6:118240600-118241000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
35	chr6:118240600-118241200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:118240600-118241200	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr6:118240600-118241200	Enhancers	Pancreas	Pancrea
38	chr6:118240600-118241400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr6:118240600-118241400	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr6:118240600-118241400	Enhancers	Esophagus	oesophagus
41	chr6:118240600-118241400	Enhancers	Spleen	Spleen
42	chr6:118240600-118241600	Active TSS	Brain Germinal Matrix	brain
43	chr6:118240600-118241800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle

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