Variant report

Variant	rs1239829
Chromosome Location	chr12:32795421-32795422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32630395..32632339-chr12:32793726..32796613,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253063	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1004968	0.92[CEU][hapmap]
rs10771970	0.86[EUR][1000 genomes]
rs10771971	0.89[EUR][1000 genomes]
rs10844255	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs10844256	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs10844257	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs10844258	0.91[EUR][1000 genomes]
rs10844262	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10844264	0.90[EUR][1000 genomes]
rs10844265	0.92[EUR][1000 genomes]
rs11052123	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11052124	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1133509	0.94[EUR][1000 genomes]
rs1875060	0.86[EUR][1000 genomes]
rs1880557	0.93[EUR][1000 genomes]
rs1909510	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4438130	0.95[EUR][1000 genomes]
rs4931648	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs67940080	0.89[EUR][1000 genomes]
rs7306370	0.90[EUR][1000 genomes]
rs7313624	0.93[EUR][1000 genomes]
rs7962152	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7966020	1.00[CEU][hapmap];0.94[EUR][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:93 , 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	chr12:32755400-32800600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:32757400-32799600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:32757600-32798000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:32757800-32797800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:32758400-32799400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:32758600-32797800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:32758600-32799600	Strong transcription	Liver	Liver
10	chr12:32758600-32800400	Strong transcription	HSMM	muscle
11	chr12:32758800-32799600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:32762800-32799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:32765800-32797000	Strong transcription	Adipose Nuclei	Adipose
14	chr12:32767400-32797000	Weak transcription	Psoas Muscle	Psoas
15	chr12:32768400-32799800	Weak transcription	NHDF-Ad	bronchial
16	chr12:32771400-32796200	Strong transcription	Fetal Intestine Large	intestine
17	chr12:32772600-32796000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:32772600-32800000	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr12:32776400-32796000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:32776600-32798400	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:32777000-32800200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:32778800-32800400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:32779600-32800400	Weak transcription	Small Intestine	intestine
24	chr12:32782000-32810600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:32784200-32799600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:32784600-32795800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:32784600-32796000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:32784600-32796000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:32785800-32799800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:32786200-32796000	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:32789000-32798000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr12:32790400-32798000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr12:32790600-32796200	Strong transcription	HUVEC	blood vessel
34	chr12:32790600-32799800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:32790800-32795800	Strong transcription	HSMMtube	muscle
36	chr12:32790800-32798000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:32790800-32799600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr12:32791200-32796000	Strong transcription	HMEC	breast
39	chr12:32791200-32796600	Weak transcription	Fetal Brain Male	brain
40	chr12:32791200-32800200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:32791400-32797000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:32791800-32797600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:32793400-32797600	Weak transcription	Brain Germinal Matrix	brain
44	chr12:32793600-32797400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:32793600-32798000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:32793600-32798200	Weak transcription	Fetal Stomach	stomach
47	chr12:32793600-32799000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:32793600-32799200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:32793600-32800000	Weak transcription	Esophagus	oesophagus
50	chr12:32793600-32800400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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