Variant report

Variant	rs2655699
Chromosome Location	chr6:80322737-80322738
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80316501..80318082-chr6:80322161..80324470,2	K562	blood:
2	chr6:80314864..80317185-chr6:80322166..80324307,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13198837	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13206818	0.81[CHB][hapmap]
rs1354452	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2009837	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2655662	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2655663	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2655683	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2655700	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2655701	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2812689	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2812690	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2812692	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4599589	0.83[ASN][1000 genomes]
rs71565047	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9359383	0.82[CHB][hapmap]
rs9359385	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9361539	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9448748	0.85[AMR][1000 genomes]
rs958114	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][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	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	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
8	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv886304	chr6:80294265-80355973	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80298600-80324200	Weak transcription	Right Ventricle	heart
2	chr6:80311000-80324400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:80311200-80324400	Weak transcription	Pancreas	Pancrea
4	chr6:80315000-80340600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:80317000-80323200	Weak transcription	Liver	Liver
6	chr6:80317400-80324400	Weak transcription	Left Ventricle	heart
7	chr6:80318000-80340200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:80319200-80324400	Weak transcription	Fetal Heart	heart
9	chr6:80319400-80328000	Weak transcription	Esophagus	oesophagus
10	chr6:80320600-80324000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:80320600-80324200	Weak transcription	Fetal Intestine Large	intestine
12	chr6:80320600-80324200	Weak transcription	Lung	lung
13	chr6:80320800-80323800	Weak transcription	K562	blood
14	chr6:80320800-80338600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:80321600-80325200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:80322000-80323000	Enhancers	Brain Germinal Matrix	brain
17	chr6:80322000-80323000	Enhancers	Fetal Intestine Small	intestine
18	chr6:80322000-80323600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:80322200-80322800	Enhancers	Brain Substantia Nigra	brain
20	chr6:80322200-80323000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr6:80322200-80323200	Enhancers	Brain Cingulate Gyrus	brain
22	chr6:80322200-80325000	Enhancers	Stomach Mucosa	stomach
23	chr6:80322400-80322800	Enhancers	Brain Angular Gyrus	brain
24	chr6:80322400-80322800	Enhancers	Fetal Brain Female	brain
25	chr6:80322400-80330600	Enhancers	HepG2	liver
26	chr6:80322600-80322800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:80322600-80322800	Enhancers	Fetal Brain Male	brain
28	chr6:80322600-80322800	Enhancers	GM12878-XiMat	blood
29	chr6:80322600-80323200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:80322600-80323200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:80322600-80324400	Enhancers	Gastric	stomach
32	chr6:80322600-80326400	Enhancers	Placenta	Placenta
33	chr6:80322600-80340000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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