Variant report

Variant	rs4438130
Chromosome Location	chr12:32792872-32792873
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32790799..32793796-chr12:32907621..32909317,2	K562	blood:
2	chr12:32792047..32794704-chr12:32795813..32797646,2	K562	blood:

Variant related genes	Relation type
ENSG00000139131	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1004968	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10771969	0.91[ASN][1000 genomes]
rs10771970	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771971	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771972	0.82[ASN][1000 genomes]
rs10771973	0.91[ASN][1000 genomes]
rs10844252	0.82[ASN][1000 genomes]
rs10844253	0.82[ASN][1000 genomes]
rs10844254	0.81[ASN][1000 genomes]
rs10844255	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844256	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844257	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844258	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844259	0.83[ASN][1000 genomes]
rs10844260	0.84[ASN][1000 genomes]
rs10844261	0.84[ASN][1000 genomes]
rs10844262	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844263	0.84[ASN][1000 genomes]
rs10844264	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844265	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844266	0.90[ASN][1000 genomes]
rs10844268	0.91[ASN][1000 genomes]
rs10844270	1.00[ASN][1000 genomes]
rs10844271	0.90[ASN][1000 genomes]
rs10844272	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052104	0.81[ASN][1000 genomes]
rs11052110	0.84[ASN][1000 genomes]
rs11052114	0.83[ASN][1000 genomes]
rs11052117	0.84[ASN][1000 genomes]
rs11052123	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052124	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052126	0.90[ASN][1000 genomes]
rs11052128	0.90[ASN][1000 genomes]
rs11052130	0.81[ASN][1000 genomes]
rs1133509	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831099	0.87[ASN][1000 genomes]
rs12311362	0.82[ASN][1000 genomes]
rs12319480	0.83[ASN][1000 genomes]
rs12370222	0.90[ASN][1000 genomes]
rs1239829	0.95[EUR][1000 genomes]
rs1473652	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1875060	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880557	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909510	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2133541	0.82[ASN][1000 genomes]
rs2173572	0.82[ASN][1000 genomes]
rs2389101	0.81[ASN][1000 genomes]
rs4931648	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56397387	0.90[ASN][1000 genomes]
rs61652801	0.91[ASN][1000 genomes]
rs6488072	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67940080	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306183	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7306370	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306976	0.90[ASN][1000 genomes]
rs7313624	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7962152	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7964947	0.91[ASN][1000 genomes]
rs7966020	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970584	0.84[ASN][1000 genomes]
rs7980205	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
2	chr12:32744200-32797600	Weak transcription	Fetal Heart	heart
3	chr12:32754200-32795200	Weak transcription	Primary B cells from cord blood	blood
4	chr12:32755400-32800600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:32757400-32799600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:32757600-32798000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:32757800-32797800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:32758400-32799400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:32758600-32797800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:32758600-32799600	Strong transcription	Liver	Liver
11	chr12:32758600-32800400	Strong transcription	HSMM	muscle
12	chr12:32758800-32799600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:32759800-32795000	Weak transcription	Fetal Kidney	kidney
14	chr12:32760200-32795000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:32760600-32793200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:32762800-32799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:32765200-32794000	Weak transcription	NHLF	lung
18	chr12:32765800-32797000	Strong transcription	Adipose Nuclei	Adipose
19	chr12:32767400-32797000	Weak transcription	Psoas Muscle	Psoas
20	chr12:32768400-32799800	Weak transcription	NHDF-Ad	bronchial
21	chr12:32771400-32796200	Strong transcription	Fetal Intestine Large	intestine
22	chr12:32772600-32796000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:32772600-32800000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr12:32774800-32793000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:32776400-32796000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:32776600-32798400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:32777000-32800200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:32778800-32794800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:32778800-32800400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:32779600-32800400	Weak transcription	Small Intestine	intestine
31	chr12:32780800-32793000	Weak transcription	NH-A	brain
32	chr12:32782000-32810600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:32782200-32793000	Weak transcription	Brain Angular Gyrus	brain
34	chr12:32782200-32793000	Weak transcription	Esophagus	oesophagus
35	chr12:32782200-32793000	Weak transcription	Spleen	Spleen
36	chr12:32782600-32793000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:32783200-32793000	Weak transcription	Gastric	stomach
38	chr12:32784200-32799600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:32784600-32795800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:32784600-32796000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:32784600-32796000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:32785200-32794400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:32785200-32795000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:32785400-32793800	Strong transcription	Left Ventricle	heart
45	chr12:32785800-32799800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:32786000-32793000	Weak transcription	Aorta	Aorta
47	chr12:32786000-32794800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr12:32786200-32793600	Strong transcription	Fetal Stomach	stomach
49	chr12:32786200-32793800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:32786200-32796000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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