Variant report

Variant	rs6780217
Chromosome Location	chr3:43025381-43025382
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2288373	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6773703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6778536	1.00[AMR][1000 genomes]
rs6778645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6778671	1.00[AMR][1000 genomes]
rs6779194	0.85[AFR][1000 genomes]
rs6794345	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6805091	1.00[AMR][1000 genomes]
rs7621158	1.00[AMR][1000 genomes]
rs9859536	1.00[AMR][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	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43021400-43030200	Weak transcription	Aorta	Aorta
2	chr3:43022000-43033000	Weak transcription	Pancreas	Pancrea
3	chr3:43022000-43037000	Weak transcription	Right Atrium	heart
4	chr3:43022200-43027600	Weak transcription	Placenta	Placenta
5	chr3:43022200-43032800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:43022400-43026800	Weak transcription	Brain Substantia Nigra	brain
7	chr3:43022800-43027600	Weak transcription	Fetal Intestine Small	intestine
8	chr3:43022800-43030000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:43023000-43037800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:43023200-43029600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:43023400-43026400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:43023400-43029600	Weak transcription	Liver	Liver
13	chr3:43023800-43025400	Enhancers	Ovary	ovary
14	chr3:43024000-43026600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:43024000-43027400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:43024200-43025800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:43024200-43026600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:43024200-43026800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:43024200-43027200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:43024200-43027400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:43024400-43027000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:43024800-43027000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:43025000-43025600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:43025000-43026600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr3:43025200-43025800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:43025200-43025800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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