Variant report

Variant	rs6807427
Chromosome Location	chr3:78679547-78679548
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10865569	0.84[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1507410	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1507421	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1605434	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2249589	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2872005	0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs3773195	0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs3773202	0.89[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3773206	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3773207	0.86[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3773210	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3821596	0.89[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4680941	0.82[AMR][1000 genomes]
rs4681004	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4681006	0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6548591	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs716386	0.95[CEU][hapmap]
rs7614084	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7625555	0.89[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.83[MKK][hapmap]

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	nsv529995	chr3:78188643-78739698	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1008156	chr3:78444137-78765884	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1010650	chr3:78505564-78699161	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78642400-78692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:78646200-78683400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:78647200-78701000	Weak transcription	Spleen	Spleen
4	chr3:78647400-78694800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:78648600-78686800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:78649400-78681200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:78652600-78684200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:78653800-78682400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:78654200-78682400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:78654200-78696800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:78654200-78708800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:78654200-78746600	Weak transcription	NHDF-Ad	bronchial
13	chr3:78654600-78697000	Weak transcription	Osteobl	bone
14	chr3:78654800-78706800	Weak transcription	NHLF	lung
15	chr3:78654800-78711000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:78655400-78679800	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:78656000-78692800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:78656000-78718600	Weak transcription	Fetal Intestine Large	intestine
19	chr3:78656200-78684400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:78656200-78687800	Weak transcription	Primary T cells from cord blood	blood
21	chr3:78656200-78690800	Weak transcription	HMEC	breast
22	chr3:78656200-78711000	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:78659400-78704400	Weak transcription	Fetal Intestine Small	intestine
24	chr3:78659800-78682400	Weak transcription	HSMMtube	muscle
25	chr3:78659800-78682400	Weak transcription	NHEK	skin
26	chr3:78660400-78696800	Weak transcription	HSMM	muscle
27	chr3:78662400-78679800	Weak transcription	Placenta	Placenta
28	chr3:78663000-78682400	Weak transcription	Brain Angular Gyrus	brain
29	chr3:78663400-78682800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr3:78664000-78710200	Weak transcription	Brain Substantia Nigra	brain
31	chr3:78664200-78692400	Weak transcription	Fetal Brain Male	brain
32	chr3:78664400-78691600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:78665400-78680200	Weak transcription	Psoas Muscle	Psoas
34	chr3:78665400-78690400	Weak transcription	Right Ventricle	heart
35	chr3:78665800-78692600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:78667200-78681600	Weak transcription	Adipose Nuclei	Adipose
37	chr3:78667200-78682400	Weak transcription	Pancreas	Pancrea
38	chr3:78667200-78685000	Weak transcription	Left Ventricle	heart
39	chr3:78667200-78702400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:78667200-78704400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:78667200-78706600	Weak transcription	Gastric	stomach
42	chr3:78667200-78751200	Weak transcription	Esophagus	oesophagus
43	chr3:78671800-78679600	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr3:78671800-78681800	Strong transcription	Fetal Lung	lung
45	chr3:78672000-78693800	Weak transcription	Fetal Heart	heart
46	chr3:78672600-78684800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:78673000-78683200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:78673400-78683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:78673800-78694000	Weak transcription	Liver	Liver
50	chr3:78674200-78683000	Strong transcription	Fetal Brain Female	brain

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