Variant report

Variant	rs1844986
Chromosome Location	chr12:31475505-31475506
allele	C/T
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	POLR2A	chr12:31475070-31479255	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:31471948-31480244	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr12:31474897-31479260	GM12878	blood:	n/a	chr12:31476622-31476632 chr12:31478859-31478869
4	CHD1	chr12:31473982-31479189	H1-hESC	embryonic stem cell:	n/a	chr12:31476622-31476632 chr12:31478859-31478869

No.	Distal block	Cell Line	Cell type
1	chr12:31445698..31447861-chr12:31473678..31476194,2	K562	blood:
2	chr12:31473855..31475579-chr12:46775928..46777663,2	K562	blood:
3	chr12:31455579..31460655-chr12:31474962..31479501,11	K562	blood:

Variant related genes	Relation type
ENSG00000177340	TF binding region
ENSG00000238661	Chromatin interaction
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11832022	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11836520	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12303025	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1992066	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1992067	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2374000	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4930974	1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4931480	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7138117	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9971805	1.00[CEU][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2758303	chr12:31125467-31491104	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	51 gene(s)	inside rSNPs	diseases
4	esv2759890	chr12:31125467-31491104	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv428276	chr12:31125467-31491104	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	esv2751043	chr12:31148662-31499671	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	esv2751053	chr12:31225710-31484881	Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	esv2754121	chr12:31225710-31493435	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv2751054	chr12:31225710-31513718	Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	esv35092	chr12:31239600-31484833	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	esv2751071	chr12:31239600-31493435	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	esv2751072	chr12:31239600-31499671	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
14	nsv430477	chr12:31239600-31513718	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
15	esv2751077	chr12:31278031-31499671	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
16	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31457600-31475800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:31460400-31476000	Weak transcription	Lung	lung
3	chr12:31467800-31475800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:31468400-31475600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:31468600-31475600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:31470800-31475800	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:31471000-31475800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr12:31471000-31475800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:31471000-31475800	Weak transcription	Brain Germinal Matrix	brain
10	chr12:31471000-31475800	Enhancers	HepG2	liver
11	chr12:31471200-31475600	Enhancers	Primary B cells from cord blood	blood
12	chr12:31471200-31475600	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:31471200-31475600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:31471200-31475600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:31471200-31475600	Enhancers	Fetal Heart	heart
16	chr12:31471200-31475800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr12:31471200-31475800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:31471200-31475800	Weak transcription	Colonic Mucosa	Colon
19	chr12:31471200-31476000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:31471200-31476000	Weak transcription	Fetal Brain Male	brain
21	chr12:31471200-31476000	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:31471200-31476400	Weak transcription	Esophagus	oesophagus
23	chr12:31471400-31475600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:31471400-31475600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:31471400-31475600	Weak transcription	Brain Anterior Caudate	brain
26	chr12:31471400-31475800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:31471400-31475800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:31471400-31475800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:31471400-31475800	Weak transcription	Adipose Nuclei	Adipose
30	chr12:31471400-31475800	Weak transcription	Psoas Muscle	Psoas
31	chr12:31471400-31475800	Weak transcription	Right Ventricle	heart
32	chr12:31471400-31476000	Weak transcription	Fetal Stomach	stomach
33	chr12:31471400-31476600	Weak transcription	Liver	Liver
34	chr12:31471400-31476600	Weak transcription	NHDF-Ad	bronchial
35	chr12:31471600-31475600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:31471600-31475600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:31471600-31475600	Enhancers	HUVEC	blood vessel
38	chr12:31471600-31475600	Weak transcription	NHLF	lung
39	chr12:31471600-31476000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:31471600-31476200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:31471600-31476400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:31471800-31475800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:31472200-31476200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr12:31472400-31475600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr12:31472400-31476000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr12:31472600-31475800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:31472600-31475800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr12:31473000-31475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:31473000-31475600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr12:31473000-31475800	Weak transcription	Ovary	ovary

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