Variant report

Variant	rs16987711
Chromosome Location	chr2:20706078-20706079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20702007..20704180-chr2:20704465..20706465,2	MCF-7	breast:
2	chr2:20673127..20675956-chr2:20701359..20706220,5	MCF-7	breast:
3	chr2:20703500..20706344-chr2:20716644..20718278,2	MCF-7	breast:
4	chr2:20700144..20702336-chr2:20705642..20707288,2	K562	blood:
5	chr2:20705997..20708328-chr2:20710442..20712863,2	K562	blood:
6	chr2:20705918..20707640-chr2:20722176..20724636,2	MCF-7	breast:
7	chr2:20696704..20698428-chr2:20704189..20706768,2	K562	blood:
8	chr2:20703282..20708679-chr2:20709033..20714740,6	MCF-7	breast:
9	chr2:20700280..20703810-chr2:20704270..20706175,3	MCF-7	breast:
10	chr2:20649707..20652267-chr2:20705397..20708007,2	MCF-7	breast:
11	chr2:20667122..20669072-chr2:20705071..20707411,3	MCF-7	breast:
12	chr2:20645420..20648317-chr2:20705967..20709253,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000227047	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16987713	0.84[YRI][hapmap]

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	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv873720	chr2:20645835-20756900	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv873721	chr2:20645835-20759789	Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv873723	chr2:20678000-20720237	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv873724	chr2:20678000-20757286	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20692400-20715200	Weak transcription	Right Atrium	heart
2	chr2:20697000-20706200	Weak transcription	Left Ventricle	heart
3	chr2:20697000-20714000	Weak transcription	Right Ventricle	heart
4	chr2:20697200-20714200	Weak transcription	HSMMtube	muscle
5	chr2:20697800-20706200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:20701200-20709000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:20701400-20706600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:20701800-20709000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:20702200-20706200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:20702600-20706200	Weak transcription	Placenta	Placenta
11	chr2:20702600-20709000	Enhancers	Hela-S3	cervix
12	chr2:20702600-20709600	Weak transcription	A549	lung
13	chr2:20704600-20706400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:20705400-20706800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:20705600-20706400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:20705600-20707200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:20705600-20707200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:20705600-20707400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:20705600-20707400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:20705600-20707400	Enhancers	Brain Substantia Nigra	brain
21	chr2:20705600-20707400	Enhancers	Osteobl	bone
22	chr2:20705600-20707600	Enhancers	NHLF	lung
23	chr2:20705600-20709000	Enhancers	HepG2	liver
24	chr2:20705800-20706400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:20705800-20706400	Enhancers	NHEK	skin
26	chr2:20705800-20706800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:20705800-20707200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:20705800-20707200	Enhancers	NHDF-Ad	bronchial
29	chr2:20705800-20707400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:20705800-20707400	Enhancers	HSMM	muscle
31	chr2:20705800-20708000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:20706000-20706200	Enhancers	Fetal Kidney	kidney
33	chr2:20706000-20706600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:20706000-20706800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:20706000-20707400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:20706000-20707400	Enhancers	NH-A	brain
37	chr2:20706000-20708000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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