Variant report

Variant	rs2293644
Chromosome Location	chr12:105623073-105623074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105501229..105503953-chr12:105621352..105624637,3	MCF-7	breast:
2	chr12:105608225..105613366-chr12:105619333..105624104,5	MCF-7	breast:
3	chr12:105620755..105625323-chr12:105625745..105629848,5	K562	blood:
4	chr12:105616267..105619374-chr12:105619746..105623496,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136044	Chromatin interaction
ENSG00000136051	Chromatin interaction
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1014502	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10431460	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10459203	0.82[CEU][hapmap]
rs10459204	0.82[CEU][hapmap]
rs1057110	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1077896	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10861334	0.81[CEU][hapmap]
rs10861339	0.81[CEU][hapmap]
rs10861359	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10861361	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1107756	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1109433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112369	0.85[EUR][1000 genomes]
rs11112370	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11112372	0.81[EUR][1000 genomes]
rs11112375	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11112376	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11112379	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11112388	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11112409	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11112412	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112415	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11112416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112421	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112423	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11112432	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11831854	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11832489	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11834277	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1196751	0.90[CHB][hapmap]
rs1196758	0.90[CHB][hapmap]
rs1196769	0.81[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs1196771	0.98[ASN][1000 genomes]
rs1196773	0.98[ASN][1000 genomes]
rs1196794	0.98[ASN][1000 genomes]
rs1196845	0.90[CHB][hapmap]
rs12228093	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12228948	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12812433	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12815031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12819309	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12823614	0.82[CEU][hapmap]
rs1317955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1373552	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1444611	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1470381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166143	0.87[CEU][hapmap]
rs2246510	0.91[CHB][hapmap]
rs2272495	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2293643	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2440695	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2440706	0.97[ASN][1000 genomes]
rs2464184	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[ASN][1000 genomes]
rs28549976	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34075890	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34983773	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35462155	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35672903	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3736628	0.84[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3794222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794223	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3794224	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3794227	0.94[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3817607	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3829296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964125	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4964334	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4964335	0.85[EUR][1000 genomes]
rs4964336	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4964338	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4964339	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4964340	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4964342	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56693261	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73179994	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7485364	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs755604	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8015	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs880797	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs881279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9919746	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105578000-105623200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:105584000-105627000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:105600800-105626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:105605600-105628400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:105609200-105626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:105609200-105628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:105611200-105628200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:105611600-105626200	Weak transcription	Fetal Brain Male	brain
10	chr12:105612000-105624800	Genic enhancers	NHDF-Ad	bronchial
11	chr12:105612800-105624200	Strong transcription	Fetal Stomach	stomach
12	chr12:105613000-105623600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr12:105616400-105623200	Strong transcription	Fetal Brain Female	brain
14	chr12:105616600-105629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:105617000-105623200	Strong transcription	Stomach Smooth Muscle	stomach
16	chr12:105617000-105629000	Weak transcription	Esophagus	oesophagus
17	chr12:105617400-105625400	Genic enhancers	Muscle Satellite Cultured Cells	--
18	chr12:105617400-105629000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:105617600-105625400	Strong transcription	A549	lung
20	chr12:105618200-105625200	Weak transcription	Right Ventricle	heart
21	chr12:105618600-105625200	Weak transcription	Spleen	Spleen
22	chr12:105618600-105626800	Weak transcription	Gastric	stomach
23	chr12:105619400-105625200	Genic enhancers	HSMM	muscle
24	chr12:105619400-105627400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:105620000-105623200	Strong transcription	Liver	Liver
26	chr12:105620000-105625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:105620200-105623200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:105620400-105624400	Weak transcription	Right Atrium	heart
29	chr12:105620400-105624600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:105620400-105624800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:105620400-105625000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:105620400-105625200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:105620400-105625200	Weak transcription	Pancreas	Pancrea
34	chr12:105620400-105625400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:105620400-105625400	Weak transcription	Fetal Heart	heart
36	chr12:105620400-105626000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:105620400-105626600	Weak transcription	Psoas Muscle	Psoas
38	chr12:105620600-105623200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr12:105620600-105624200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:105620600-105624600	Genic enhancers	NH-A	brain
41	chr12:105620600-105625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:105620800-105623600	Strong transcription	Dnd41	blood
43	chr12:105621000-105623600	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:105621000-105623600	Strong transcription	Left Ventricle	heart
45	chr12:105621200-105623200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:105621200-105623200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:105621200-105623200	Strong transcription	Brain Germinal Matrix	brain
48	chr12:105621200-105623200	Genic enhancers	NHLF	lung
49	chr12:105621200-105623400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:105621200-105623400	Strong transcription	Fetal Lung	lung

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