Variant report

Variant	rs2907492
Chromosome Location	chr12:4655670-4655671
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	POLR2A	chr12:4655392-4655708	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4653671..4657442-chr12:4657770..4662457,4	K562	blood:

Variant related genes	Relation type
RAD51AP1	TF binding region
ENSG00000111247	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1029769	1.00[CHB][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10444478	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs10849083	1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10849085	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10849086	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10849087	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849089	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10849090	0.91[ASN][1000 genomes]
rs10849091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11063187	0.91[ASN][1000 genomes]
rs11063188	0.91[ASN][1000 genomes]
rs11063193	0.91[ASN][1000 genomes]
rs11063194	0.91[ASN][1000 genomes]
rs11063195	0.91[ASN][1000 genomes]
rs11063196	0.91[ASN][1000 genomes]
rs11063197	0.91[ASN][1000 genomes]
rs11063199	0.91[ASN][1000 genomes]
rs11063202	0.91[ASN][1000 genomes]
rs11063205	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs11063206	0.91[ASN][1000 genomes]
rs11063207	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs11063213	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11063214	0.91[ASN][1000 genomes]
rs11063215	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs11063217	0.91[ASN][1000 genomes]
rs11063220	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11063227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063230	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs12314323	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366731	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs12367035	0.91[ASN][1000 genomes]
rs2907494	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2907495	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2907498	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2907499	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2909380	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2909381	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2970808	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2970810	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2970812	0.91[ASN][1000 genomes]
rs2970818	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs4238020	0.94[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4323977	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs60388479	0.91[ASN][1000 genomes]
rs61909580	0.91[ASN][1000 genomes]
rs71459910	0.91[ASN][1000 genomes]
rs73037770	0.91[ASN][1000 genomes]
rs7304949	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7308641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971700	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9971728	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4648400-4670200	Weak transcription	Left Ventricle	heart
2	chr12:4648400-4671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:4648400-4671400	Weak transcription	Esophagus	oesophagus
4	chr12:4648600-4671200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:4648800-4659600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:4648800-4664800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:4648800-4669600	Weak transcription	Fetal Brain Male	brain
8	chr12:4648800-4670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:4648800-4671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:4649000-4657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:4649000-4664600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:4649000-4666000	Weak transcription	Placenta	Placenta
13	chr12:4649000-4671000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:4649000-4671000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:4649000-4671000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:4649000-4671200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:4649200-4657400	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:4649200-4657600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:4649200-4657600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:4649200-4657800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:4649200-4663200	Weak transcription	Fetal Brain Female	brain
22	chr12:4649200-4670800	Weak transcription	Fetal Intestine Small	intestine
23	chr12:4649400-4657000	Weak transcription	Fetal Intestine Large	intestine
24	chr12:4649400-4657400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:4649400-4657400	Weak transcription	Thymus	Thymus
26	chr12:4649400-4658200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:4649400-4661600	Weak transcription	Fetal Lung	lung
28	chr12:4649400-4671000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:4649400-4671000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:4649400-4671000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:4649600-4657600	Weak transcription	Fetal Heart	heart
32	chr12:4649600-4659000	Weak transcription	Primary T cells from cord blood	blood
33	chr12:4649600-4666200	Weak transcription	NHLF	lung
34	chr12:4649600-4671000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:4649600-4671000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:4649600-4671000	Weak transcription	Fetal Kidney	kidney
37	chr12:4649600-4671200	Weak transcription	NHEK	skin
38	chr12:4649800-4657600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:4649800-4658200	Weak transcription	Brain Germinal Matrix	brain
40	chr12:4649800-4659600	Weak transcription	Fetal Stomach	stomach
41	chr12:4650200-4668600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:4650200-4670600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:4650400-4658000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:4650400-4670000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:4650400-4670200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:4651000-4656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:4651000-4658200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:4651000-4660400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:4651000-4670400	Strong transcription	Fetal Thymus	thymus
50	chr12:4651200-4661000	Strong transcription	Monocytes-CD14+_RO01746	blood

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