Variant report

Variant	rs7135019
Chromosome Location	chr12:22209091-22209092
allele	A/G/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	FOS	chr12:22209091-22209382	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22198261..22201239-chr12:22208109..22210711,2	K562	blood:
2	chr12:22208985..22211876-chr12:22213406..22216314,4	K562	blood:

Variant related genes	Relation type
CMAS	TF binding region
ENSG00000111726	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10841928	0.82[AMR][1000 genomes]
rs10841929	1.00[CEU][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10841931	1.00[CEU][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10841932	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10841933	1.00[CEU][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10841934	0.80[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10841935	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10841936	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11046275	0.91[CEU][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046276	1.00[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046281	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11046289	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046290	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046291	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046292	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046297	0.96[CEU][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2058849	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2111352	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2216296	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2418037	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2418038	1.00[CEU][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2955515	0.80[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2970800	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3809204	0.93[ASN][1000 genomes]
rs6487268	0.96[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487272	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6487273	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6487275	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487276	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs731355	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7316741	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7316854	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs759582	1.00[CEU][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv438196	chr12:22195202-22234058	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv1850259	chr12:22198865-22244741	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22200000-22209400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:22200000-22209400	Weak transcription	Spleen	Spleen
3	chr12:22200000-22214400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:22200000-22218200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:22200000-22220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:22200000-22220200	Weak transcription	Lung	lung
7	chr12:22200200-22209200	Weak transcription	Primary B cells from cord blood	blood
8	chr12:22200200-22209200	Weak transcription	Right Ventricle	heart
9	chr12:22200200-22209200	Weak transcription	HSMM	muscle
10	chr12:22200200-22209400	Weak transcription	Left Ventricle	heart
11	chr12:22200200-22209400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:22200200-22215200	Weak transcription	HSMMtube	muscle
13	chr12:22200200-22215800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:22200200-22219600	Weak transcription	Aorta	Aorta
15	chr12:22200400-22209200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:22200400-22216600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:22200400-22220400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:22200800-22209400	Weak transcription	Brain Germinal Matrix	brain
19	chr12:22200800-22209400	Weak transcription	Brain Substantia Nigra	brain
20	chr12:22200800-22209400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:22200800-22209400	Weak transcription	NHLF	lung
22	chr12:22200800-22210800	Weak transcription	Fetal Stomach	stomach
23	chr12:22200800-22220800	Weak transcription	Fetal Heart	heart
24	chr12:22201200-22209200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:22201200-22209200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:22201200-22209400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:22201200-22211400	Weak transcription	Hela-S3	cervix
28	chr12:22201400-22220400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:22201800-22219000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:22202000-22218000	Weak transcription	Psoas Muscle	Psoas
31	chr12:22202000-22219600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:22202000-22220200	Weak transcription	Fetal Brain Male	brain
33	chr12:22202200-22217000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:22202200-22218000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:22202200-22223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:22203400-22209200	Weak transcription	NHEK	skin
37	chr12:22203400-22209400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:22203400-22209600	Weak transcription	Colonic Mucosa	Colon
39	chr12:22203600-22209200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:22203800-22209400	Weak transcription	Ovary	ovary
41	chr12:22203800-22220200	Weak transcription	Esophagus	oesophagus
42	chr12:22203800-22220200	Weak transcription	Small Intestine	intestine
43	chr12:22203800-22235200	Weak transcription	Gastric	stomach
44	chr12:22204000-22209200	Weak transcription	Thymus	Thymus
45	chr12:22204000-22215400	Weak transcription	Brain Angular Gyrus	brain
46	chr12:22204400-22215400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:22204600-22209200	Weak transcription	HepG2	liver
48	chr12:22204600-22219400	Weak transcription	Stomach Mucosa	stomach
49	chr12:22204600-22223400	Weak transcription	Pancreas	Pancrea
50	chr12:22205200-22209200	Weak transcription	Fetal Intestine Large	intestine

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