Variant report

Variant	rs2000292
Chromosome Location	chr6:78166945-78166946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10806098	0.83[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs13192352	0.84[EUR][1000 genomes]
rs6296	0.83[EUR][1000 genomes]
rs6298	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017082	chr6:77585310-78258237	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv534282	chr6:77764575-78351994	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034979	chr6:77781244-78426249	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538324	chr6:77781244-78426249	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1015307	chr6:77902559-78352291	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1028259	chr6:78059491-78709871	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv538325	chr6:78059491-78709871	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2758062	chr6:78100020-78283042	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2759445	chr6:78100020-78283042	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78155600-78167200	Weak transcription	Fetal Heart	heart
2	chr6:78163800-78167800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr6:78164000-78167600	Enhancers	HSMM	muscle
4	chr6:78164200-78167000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr6:78164200-78167000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:78164200-78167600	Enhancers	NH-A	brain
7	chr6:78164200-78168200	Enhancers	NHLF	lung
8	chr6:78164400-78167400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:78164400-78167400	Enhancers	Osteobl	bone
10	chr6:78165000-78167600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:78165800-78167400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:78165800-78167600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:78165800-78167600	Enhancers	Hela-S3	cervix
14	chr6:78165800-78167600	Enhancers	HMEC	breast
15	chr6:78165800-78167600	Enhancers	NHEK	skin
16	chr6:78166000-78167000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:78166000-78167000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:78166200-78169200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:78166400-78167400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:78166400-78167600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:78166400-78168600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:78166400-78171000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr6:78166400-78171400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:78166600-78167000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:78166600-78167000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:78166600-78167400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:78166600-78168000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr6:78166600-78168000	Active TSS	Aorta	Aorta
29	chr6:78166600-78171800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:78166800-78167000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:78166800-78167000	Flanking Active TSS	NHDF-Ad	bronchial
32	chr6:78166800-78167200	Enhancers	HUVEC	blood vessel
33	chr6:78166800-78167400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:78166800-78167600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:78166800-78167600	Active TSS	A549	lung

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