Variant report

Variant	rs169631
Chromosome Location	chr12:121583751-121583752
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:121582800-121583854	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121561837..121563360-chr12:121583686..121585355,2	K562	blood:
2	chr12:121581791..121584022-chr12:121646215..121648780,2	K562	blood:
3	chr12:121578629..121580685-chr12:121583466..121586479,3	K562	blood:
4	chr12:121582333..121584547-chr12:121587526..121589341,2	K562	blood:

Variant related genes	Relation type
ENSG00000257053	TF binding region
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10849844	0.85[CHB][hapmap]
rs11065434	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065442	0.94[ASN][1000 genomes]
rs1180011	0.88[ASN][1000 genomes]
rs1180012	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1180015	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1183296	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1185268	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs169632	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs169633	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1794897	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1796422	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs183283	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs189989	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs208277	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs208280	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs208284	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs208287	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs208290	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs208293	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs208294	0.90[CHB][hapmap]
rs2263271	0.91[ASN][1000 genomes]
rs2393799	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2686352	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs500930	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs501167	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs570984	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs575572	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs582315	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs591874	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs636719	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs656612	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs665794	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs671684	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676262	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs685019	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7309886	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571400-121594000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
3	chr12:121572200-121599800	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:121572600-121592600	Weak transcription	Liver	Liver
5	chr12:121572800-121601600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:121576600-121592400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:121577000-121593400	Weak transcription	Primary T cells from cord blood	blood
8	chr12:121578200-121585200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:121578200-121592400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:121580400-121592000	Weak transcription	Ovary	ovary
11	chr12:121580400-121592400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:121580800-121584000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:121581000-121584000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:121581400-121583800	Enhancers	K562	blood
15	chr12:121581600-121583800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:121581800-121583800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:121581800-121584000	Genic enhancers	Brain Hippocampus Middle	brain
18	chr12:121582000-121594000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:121582200-121584000	Enhancers	GM12878-XiMat	blood
20	chr12:121582200-121593200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:121582400-121583800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:121582400-121584600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:121582800-121583800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:121583000-121583800	Weak transcription	Esophagus	oesophagus
25	chr12:121583000-121592400	Weak transcription	Spleen	Spleen
26	chr12:121583000-121595200	Weak transcription	Adipose Nuclei	Adipose
27	chr12:121583000-121613200	Weak transcription	Primary B cells from cord blood	blood
28	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:121583200-121583800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr12:121583200-121583800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:121583200-121586600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:121583200-121592200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:121583200-121593600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:121583200-121593800	Weak transcription	Brain Anterior Caudate	brain
35	chr12:121583200-121594000	Weak transcription	Brain Angular Gyrus	brain
36	chr12:121583200-121594200	Weak transcription	Lung	lung
37	chr12:121583200-121595800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:121583400-121584400	Weak transcription	Brain Substantia Nigra	brain
39	chr12:121583600-121583800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:121583600-121584000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr12:121583600-121599600	Weak transcription	Primary T cells fromperipheralblood	blood

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