Variant report

Variant	rs16830672
Chromosome Location	chr2:152918863-152918864
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	chr2:152918845..152920622-chr2:152923227..152925166,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13005388	0.81[ASN][1000 genomes]
rs16830659	0.95[ASN][1000 genomes]
rs17397914	0.95[ASN][1000 genomes]
rs62175077	0.95[ASN][1000 genomes]
rs71350312	0.81[ASN][1000 genomes]
rs71415202	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv875290	chr2:152803129-152920126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152916000-152919000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:152916000-152919000	Weak transcription	NHEK	skin
3	chr2:152916000-152932000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:152916200-152919000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:152917800-152919000	Weak transcription	Esophagus	oesophagus
6	chr2:152918000-152920600	Enhancers	Fetal Brain Male	brain
7	chr2:152918600-152919000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:152918600-152919600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:152918800-152919000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:152918800-152919000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
11	chr2:152918800-152919000	Enhancers	Adipose Nuclei	Adipose
12	chr2:152918800-152919400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:152918800-152919400	Flanking Active TSS	GM12878-XiMat	blood
14	chr2:152918800-152919400	Flanking Active TSS	HSMMtube	muscle
15	chr2:152918800-152919400	Flanking Active TSS	NHDF-Ad	bronchial
16	chr2:152918800-152919400	Flanking Active TSS	Osteobl	bone
17	chr2:152918800-152919600	Enhancers	Primary B cells from cord blood	blood
18	chr2:152918800-152919600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:152918800-152919600	Enhancers	Fetal Kidney	kidney
20	chr2:152918800-152919600	Enhancers	Ovary	ovary
21	chr2:152918800-152919600	Enhancers	NH-A	brain
22	chr2:152918800-152919800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:152918800-152919800	Enhancers	Fetal Stomach	stomach
24	chr2:152918800-152920000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:152918800-152920000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:152918800-152920000	Enhancers	Colon Smooth Muscle	Colon
27	chr2:152918800-152920200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:152918800-152920200	Enhancers	HSMM	muscle
29	chr2:152918800-152920400	Enhancers	Fetal Muscle Leg	muscle
30	chr2:152918800-152920400	Enhancers	NHLF	lung
31	chr2:152918800-152920800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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