Variant report

Variant	rs12063903
Chromosome Location	chr1:113591256-113591257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113413526..113415499-chr1:113588812..113591393,2	MCF-7	breast:
2	chr1:113590590..113592090-chr1:113614384..113617180,2	MCF-7	breast:
3	chr1:113590314..113592778-chr1:113600467..113602579,2	K562	blood:

Variant related genes	Relation type
ENSG00000238198	Chromatin interaction
ENSG00000198799	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11102547	1.00[EUR][1000 genomes]
rs11102564	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11102570	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11102572	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11102587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12058371	1.00[EUR][1000 genomes]
rs12061638	1.00[EUR][1000 genomes]
rs12061679	1.00[EUR][1000 genomes]
rs12063125	1.00[EUR][1000 genomes]
rs12063286	1.00[EUR][1000 genomes]
rs12063907	1.00[EUR][1000 genomes]
rs12066276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066409	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12068534	1.00[EUR][1000 genomes]
rs12068812	1.00[EUR][1000 genomes]
rs12068820	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068935	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12069411	1.00[EUR][1000 genomes]
rs12069981	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12075099	1.00[EUR][1000 genomes]
rs12075714	1.00[EUR][1000 genomes]
rs12078513	1.00[EUR][1000 genomes]
rs12079268	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12079494	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12079508	1.00[EUR][1000 genomes]
rs12079574	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12084281	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12090558	1.00[EUR][1000 genomes]
rs12093541	1.00[EUR][1000 genomes]
rs1216782	1.00[EUR][1000 genomes]
rs1216786	1.00[EUR][1000 genomes]
rs1216787	1.00[EUR][1000 genomes]
rs17030888	1.00[EUR][1000 genomes]
rs6657174	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6676854	1.00[EUR][1000 genomes]
rs6680771	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6680949	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6699036	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72990262	1.00[EUR][1000 genomes]
rs72990279	1.00[EUR][1000 genomes]
rs72990283	1.00[EUR][1000 genomes]
rs72990285	1.00[EUR][1000 genomes]
rs72990286	1.00[EUR][1000 genomes]
rs72996345	1.00[EUR][1000 genomes]
rs7511828	1.00[EUR][1000 genomes]
rs7513355	1.00[EUR][1000 genomes]
rs7518119	1.00[EUR][1000 genomes]
rs7530614	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7537295	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7540515	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7545283	1.00[EUR][1000 genomes]
rs7551138	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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	68 gene(s)	inside rSNPs	diseases
8	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv946146	chr1:113567302-113640814	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv508537	chr1:113590343-113635803	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113585600-113599200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:113585600-113601800	Weak transcription	Fetal Stomach	stomach
3	chr1:113586600-113599600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:113587400-113599600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:113588000-113596200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:113589400-113596400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:113589800-113591400	Enhancers	Fetal Intestine Large	intestine
8	chr1:113589800-113595600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:113590000-113596400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:113590000-113601400	Weak transcription	Right Atrium	heart
11	chr1:113590200-113593600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:113590200-113593800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:113590400-113591800	Enhancers	HepG2	liver
14	chr1:113590400-113593600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:113590600-113593600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:113590600-113593600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:113590800-113593400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:113590800-113593600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:113591000-113593600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:113591000-113596200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:113591000-113596400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:113591200-113595800	Weak transcription	Fetal Intestine Small	intestine

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