Variant report

Variant	rs13334595
Chromosome Location	chr16:70474574-70474575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70473375..70475549-chr16:70479370..70482339,3	MCF-7	breast:
2	chr16:70472362..70474949-chr16:70478691..70481186,3	K562	blood:
3	chr16:70321413..70324290-chr16:70473557..70475529,2	K562	blood:
4	chr16:70470745..70475630-chr16:70476191..70481668,5	MCF-7	breast:
5	chr16:70472717..70474630-chr16:70487093..70489671,2	MCF-7	breast:
6	chr16:70470174..70475385-chr16:70486021..70489021,8	K562	blood:

Variant related genes	Relation type
ENSG00000090861	Chromatin interaction
ENSG00000240043	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000200153	Chromatin interaction
ENSG00000157349	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12923937	1.00[CHD][hapmap]
rs17881323	1.00[CHD][hapmap]
rs17881635	1.00[CHD][hapmap]
rs17883248	1.00[CHD][hapmap]
rs17883716	1.00[CHD][hapmap]
rs17886060	1.00[CHD][hapmap]
rs28838669	1.00[CHD][hapmap]
rs7203007	1.00[CHD][hapmap]
rs9929354	1.00[CHD][hapmap]

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	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70473800-70475000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:70473800-70475200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:70473800-70478200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:70473800-70478200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:70473800-70480600	Weak transcription	Colonic Mucosa	Colon
6	chr16:70473800-70484800	Weak transcription	Right Atrium	heart
7	chr16:70474000-70477200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:70474000-70477800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr16:70474000-70478200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr16:70474000-70478400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:70474000-70478400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr16:70474000-70478600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:70474000-70480800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr16:70474200-70475400	Weak transcription	Fetal Intestine Small	intestine
15	chr16:70474200-70476000	Enhancers	K562	blood
16	chr16:70474200-70477400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:70474200-70478200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:70474200-70478400	Weak transcription	Stomach Mucosa	stomach
19	chr16:70474200-70478400	Weak transcription	GM12878-XiMat	blood
20	chr16:70474200-70479000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr16:70474200-70479000	Weak transcription	Small Intestine	intestine
22	chr16:70474400-70474800	Weak transcription	Fetal Intestine Large	intestine
23	chr16:70474400-70475000	Enhancers	HepG2	liver
24	chr16:70474400-70478200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr16:70474400-70484600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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