Variant report

Variant	rs9943291
Chromosome Location	chr1:120292290-120292291
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120290085..120292530-chr1:120299759..120301294,2	MCF-7	breast:
2	chr1:120290151..120293053-chr1:120335824..120338207,2	MCF-7	breast:
3	chr1:120286100..120288877-chr1:120290549..120293981,3	K562	blood:
4	chr1:120286505..120288307-chr1:120292207..120294976,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10923897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11487674	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12070041	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12079115	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12406668	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2236399	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2236400	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2241868	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	nsv831204	chr1:120266449-120314091	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking 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 miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh 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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120282000-120293400	Weak transcription	Aorta	Aorta
2	chr1:120286800-120297800	Weak transcription	Right Ventricle	heart
3	chr1:120286800-120302200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:120286800-120310000	Weak transcription	Psoas Muscle	Psoas
5	chr1:120287000-120301800	Weak transcription	Left Ventricle	heart
6	chr1:120287000-120308200	Weak transcription	Stomach Mucosa	stomach
7	chr1:120287200-120293400	Weak transcription	Right Atrium	heart
8	chr1:120287200-120308800	Weak transcription	Fetal Kidney	kidney
9	chr1:120288000-120306800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:120289600-120294600	Strong transcription	Fetal Intestine Small	intestine
11	chr1:120289600-120306200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:120290000-120303600	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr1:120290800-120292400	Strong transcription	Gastric	stomach
14	chr1:120290800-120301600	Strong transcription	Liver	Liver
15	chr1:120290800-120302600	Strong transcription	Colonic Mucosa	Colon
16	chr1:120290800-120303600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr1:120291000-120306800	Weak transcription	Esophagus	oesophagus
18	chr1:120291000-120310600	Weak transcription	Placenta	Placenta
19	chr1:120291400-120294000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:120291600-120295200	Strong transcription	Fetal Intestine Large	intestine
21	chr1:120291600-120299400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:120292000-120292400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:120292200-120292400	Enhancers	Lung	lung
24	chr1:120292200-120299600	Weak transcription	Fetal Stomach	stomach

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