Variant report

Variant	rs2803198
Chromosome Location	chr6:80246812-80246813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:79786363..79788558-chr6:80246704..80249654,3	K562	blood:
2	chr6:79784764..79788097-chr6:80246158..80249987,4	MCF-7	breast:
3	chr6:79786974..79789353-chr6:80246033..80249654,3	K562	blood:

Variant related genes	Relation type
ENSG00000146247	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1385533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1385535	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1394288	1.00[YRI][hapmap]
rs1485368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1847499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1875846	1.00[EUR][1000 genomes]
rs2575199	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655664	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655695	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2803187	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2803196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2814374	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2814387	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2814389	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56010310	1.00[EUR][1000 genomes]
rs905713	1.00[YRI][hapmap]
rs9448702	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv886303	chr6:80147225-80252423	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv463906	chr6:80240951-80313297	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv604052	chr6:80240951-80313297	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1067911	chr6:80246626-80248223	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr6:80243000-80249400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr6:80245000-80248800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:80245000-80249200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr6:80245200-80248800	Active TSS	Fetal Brain Male	brain
5	chr6:80245400-80249400	Active TSS	Right Atrium	heart
6	chr6:80245600-80248200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:80245600-80248400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:80245600-80248800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:80245600-80248800	Active TSS	NHLF	lung
10	chr6:80245600-80249400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:80245800-80247600	Active TSS	HepG2	liver
12	chr6:80245800-80248000	Active TSS	A549	lung
13	chr6:80245800-80248400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:80245800-80248400	Active TSS	Osteobl	bone
15	chr6:80245800-80248600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:80245800-80248800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:80245800-80249400	Active TSS	K562	blood
18	chr6:80245800-80249600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:80246000-80247000	Flanking Active TSS	Liver	Liver
20	chr6:80246000-80247800	Active TSS	GM12878-XiMat	blood
21	chr6:80246000-80248000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:80246000-80248000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:80246000-80248000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:80246000-80248000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr6:80246000-80248200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr6:80246000-80248200	Active TSS	Muscle Satellite Cultured Cells	--
27	chr6:80246000-80248200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:80246000-80248400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr6:80246000-80248400	Active TSS	H1 Cell Line	embryonic stem cell
30	chr6:80246000-80248400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:80246000-80248400	Active TSS	Fetal Muscle Leg	muscle
32	chr6:80246000-80248400	Active TSS	NHDF-Ad	bronchial
33	chr6:80246000-80248600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:80246000-80248600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:80246000-80248600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:80246000-80248600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:80246000-80248600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:80246000-80248600	Active TSS	Brain Substantia Nigra	brain
39	chr6:80246000-80248600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr6:80246000-80248600	Active TSS	Fetal Intestine Large	intestine
41	chr6:80246000-80248600	Active TSS	Fetal Lung	lung
42	chr6:80246000-80248600	Active TSS	Fetal Stomach	stomach
43	chr6:80246000-80248600	Active TSS	Ovary	ovary
44	chr6:80246000-80248600	Active TSS	HSMM	muscle
45	chr6:80246000-80248600	Active TSS	HSMMtube	muscle
46	chr6:80246000-80248800	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr6:80246000-80248800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:80246000-80248800	Active TSS	Aorta	Aorta
49	chr6:80246000-80248800	Active TSS	Duodenum Mucosa	Duodenum
50	chr6:80246000-80248800	Active TSS	Psoas Muscle	Psoas

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