Variant report

Variant	rs13375159
Chromosome Location	chr1:120230823-120230824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120167579..120169748-chr1:120230698..120233512,2	K562	blood:
2	chr1:120229792..120231465-chr1:120324714..120327706,2	MCF-7	breast:
3	chr1:120228899..120230823-chr1:120252883..120254482,3	K562	blood:
4	chr1:120229272..120230952-chr1:120253510..120256383,3	MCF-7	breast:
5	chr1:120230713..120233125-chr1:120252907..120256114,4	MCF-7	breast:
6	chr1:120229496..120231621-chr1:120254696..120256885,2	K562	blood:

Variant related genes	Relation type
ENSG00000092621	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10158338	0.81[AFR][1000 genomes]
rs10158920	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17024138	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs920514	1.00[YRI][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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised 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	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 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	chr1:120222800-120231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:120227000-120231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:120228200-120232200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:120228400-120232400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:120228600-120233000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:120229000-120232200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:120229000-120232400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:120229200-120231400	Weak transcription	Esophagus	oesophagus
9	chr1:120229400-120231600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:120229600-120231400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:120230000-120231200	Enhancers	HMEC	breast
12	chr1:120230200-120231200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr1:120230400-120231000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:120230400-120231400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:120230400-120231400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:120230400-120231600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:120230400-120231600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:120230400-120232000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:120230400-120232600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:120230400-120232800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:120230600-120231200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:120230600-120231600	Enhancers	NHEK	skin
23	chr1:120230600-120232200	Weak transcription	Placenta	Placenta
24	chr1:120230800-120231000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:120230800-120231200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links