Variant report

Variant	rs3814395
Chromosome Location	chr2:151344984-151344985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:151344960-151345110	GM12865	blood:	n/a	n/a
2	CTCF	chr2:151344940-151345090	NHLF	lung:	n/a	n/a
3	SMC3	chr2:151340551-151345244	SK-N-SH	brain:	n/a	chr2:151342649-151342656 chr2:151342805-151342813 chr2:151342638-151342648

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:151338744..151345527-chr2:151464975..151472294,14	MCF-7	breast:

Variant related genes	Relation type
RND3	TF binding region
ENSG00000224048	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1528431	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834414	chr2:151209374-151413309	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151344000-151348000	Weak transcription	Fetal Heart	heart
2	chr2:151344000-151352000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:151344200-151345200	Weak transcription	A549	lung
4	chr2:151344200-151345200	Weak transcription	NHLF	lung
5	chr2:151344200-151345400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:151344200-151345600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:151344200-151347600	Weak transcription	Osteobl	bone
8	chr2:151344200-151347800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:151344200-151347800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:151344200-151347800	Weak transcription	HUVEC	blood vessel
11	chr2:151344200-151348000	Weak transcription	Hela-S3	cervix
12	chr2:151344200-151348200	Weak transcription	NH-A	brain
13	chr2:151344200-151348400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:151344200-151348600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:151344200-151348600	Weak transcription	Liver	Liver
16	chr2:151344200-151351200	Weak transcription	NHEK	skin
17	chr2:151344200-151351800	Weak transcription	HMEC	breast
18	chr2:151344200-151352600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:151344400-151345000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:151344400-151345400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:151344400-151347600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:151344400-151352000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:151344600-151345000	Enhancers	Brain Germinal Matrix	brain
24	chr2:151344600-151349400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:151344600-151352000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:151344800-151347800	Enhancers	NHDF-Ad	bronchial

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