Variant report

Variant	rs1437505
Chromosome Location	chr12:104216214-104216215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104211016..104214804-chr12:104214822..104218776,4	K562	blood:
2	chr12:104211319..104217420-chr12:104233507..104236073,8	MCF-7	breast:
3	chr12:104214519..104222192-chr12:104231005..104236989,8	K562	blood:
4	chr12:104215538..104217746-chr12:104226059..104228038,3	K562	blood:

Variant related genes	Relation type
ENSG00000257754	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1057892	0.85[CEU][hapmap]
rs12422418	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs12422615	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs12422701	0.88[EUR][1000 genomes]
rs12423476	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12423889	0.93[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12423912	0.90[CEU][hapmap];0.92[EUR][1000 genomes]
rs12423994	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs12424929	0.88[EUR][1000 genomes]
rs12424984	0.84[EUR][1000 genomes]
rs12425283	0.81[CEU][hapmap];0.92[EUR][1000 genomes]
rs1550207	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1550208	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17034593	0.89[EUR][1000 genomes]
rs17034620	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17034625	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17034637	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17034639	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17034640	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17034642	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17034645	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17034648	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17034650	0.93[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17034662	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17794246	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs2289258	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs3751196	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs3812802	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55736751	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55810720	0.89[EUR][1000 genomes]
rs55932227	0.88[EUR][1000 genomes]
rs55949441	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55987022	0.88[EUR][1000 genomes]
rs55993375	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56123042	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56143748	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56147174	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56255894	0.84[EUR][1000 genomes]
rs56314567	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56403068	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57173983	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59651914	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59716163	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60378307	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61512578	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61748068	0.89[EUR][1000 genomes]
rs7135803	0.90[AFR][1000 genomes]
rs7295408	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7314150	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7485127	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv899483	chr12:104117462-104218956	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv899487	chr12:104118587-104218956	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv899489	chr12:104144835-104218956	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv899490	chr12:104149022-104218956	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104193000-104217600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104196400-104221800	Weak transcription	Brain Anterior Caudate	brain
3	chr12:104202200-104218200	Weak transcription	Gastric	stomach
4	chr12:104207400-104217200	Weak transcription	Fetal Intestine Large	intestine
5	chr12:104208200-104221800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:104208200-104223200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:104208200-104227800	Weak transcription	Pancreas	Pancrea
8	chr12:104208600-104221200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:104208800-104227600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:104212000-104218200	Enhancers	Colon Smooth Muscle	Colon
11	chr12:104213400-104217600	Weak transcription	Psoas Muscle	Psoas
12	chr12:104213600-104218000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:104213800-104218800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:104214600-104216400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:104214800-104216400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:104214800-104219400	Weak transcription	Ovary	ovary
17	chr12:104215000-104216600	Enhancers	NH-A	brain
18	chr12:104215000-104219800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:104215200-104217800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:104215200-104218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:104215200-104218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:104215200-104221800	Weak transcription	Aorta	Aorta
23	chr12:104215200-104226000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:104215200-104227600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:104215400-104216600	Strong transcription	K562	blood
26	chr12:104215400-104216800	Enhancers	Osteobl	bone
27	chr12:104215400-104217000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:104215400-104217600	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:104215400-104218600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:104215400-104221200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:104215400-104221600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:104215400-104221600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:104215400-104221600	Weak transcription	HepG2	liver
34	chr12:104215400-104221800	Weak transcription	Brain Angular Gyrus	brain
35	chr12:104215400-104223400	Enhancers	Rectal Smooth Muscle	rectum
36	chr12:104215600-104216600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:104215600-104216600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:104215600-104216600	Enhancers	HMEC	breast
39	chr12:104215600-104216600	Enhancers	NHEK	skin
40	chr12:104215800-104217200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:104215800-104218400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:104215800-104218400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:104215800-104219400	Weak transcription	A549	lung
44	chr12:104215800-104221600	Weak transcription	NHLF	lung
45	chr12:104216000-104216400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:104216000-104216800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:104216000-104217800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:104216200-104216400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:104216200-104216400	Genic enhancers	HSMM	muscle
50	chr12:104216200-104216600	Enhancers	Stomach Smooth Muscle	stomach

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