Variant report

Variant	rs200208126
Chromosome Location	chr1:161708305-161708306
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161617120..161618031-chr1:161708194..161708800,2	K562	blood:
2	chr1:161456577..161457810-chr1:161708207..161709215,4	MCF-7	breast:
3	chr1:161708003..161709777-chr1:161726766..161729358,2	K562	blood:
4	chr1:161456526..161457470-chr1:161708207..161709201,4	K562	blood:
5	chr1:161707782..161710051-chr1:161718235..161721355,3	K562	blood:
6	chr1:161702286..161705058-chr1:161705873..161710501,6	K562	blood:
7	chr1:161617196..161618017-chr1:161708253..161708755,2	MCF-7	breast:
8	chr1:161708205..161716175-chr1:161716206..161720292,10	MCF-7	breast:
9	chr1:161454708..161457189-chr1:161706956..161708732,2	MCF-7	breast:
10	chr1:161708210..161710025-chr1:161718512..161720124,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000081721	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv1005615	chr1:161707312-161714444	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161700200-161708400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:161704000-161708600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:161704000-161713800	Weak transcription	HUVEC	blood vessel
4	chr1:161704200-161709000	Weak transcription	Placenta	Placenta
5	chr1:161705400-161708600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:161706800-161708400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:161706800-161708800	Enhancers	GM12878-XiMat	blood
8	chr1:161706800-161713600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:161706800-161718800	Weak transcription	NH-A	brain
10	chr1:161707000-161711600	Enhancers	K562	blood
11	chr1:161707200-161711400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:161707400-161713000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:161707600-161711200	Weak transcription	A549	lung
14	chr1:161707600-161713000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:161707600-161713200	Weak transcription	NHDF-Ad	bronchial
16	chr1:161707600-161719200	Weak transcription	NHLF	lung
17	chr1:161707800-161711600	Enhancers	Primary B cells from peripheral blood	blood
18	chr1:161708000-161709800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:161708000-161711200	Enhancers	Primary B cells from cord blood	blood
20	chr1:161708200-161709200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:161708200-161711200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:161708200-161711400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:161708200-161711400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:161708200-161711600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:161708200-161713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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