Variant report

Variant	rs7964947
Chromosome Location	chr12:32794921-32794922
allele	A/G
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: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1004968	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs10771969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771970	0.85[ASN][1000 genomes]
rs10771971	0.91[ASN][1000 genomes]
rs10771972	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844252	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844254	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10844255	0.84[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs10844256	0.84[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs10844257	0.84[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs10844258	0.83[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10844259	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10844260	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844261	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844262	0.84[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs10844263	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844264	0.84[ASN][1000 genomes]
rs10844265	0.84[ASN][1000 genomes]
rs10844266	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844268	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844270	0.91[ASN][1000 genomes]
rs10844271	0.99[ASN][1000 genomes]
rs10844272	0.89[ASN][1000 genomes]
rs11052103	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11052104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11052110	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11052114	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11052117	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11052123	0.92[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs11052124	0.84[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs11052126	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052128	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11052130	0.89[ASN][1000 genomes]
rs1133509	0.91[ASN][1000 genomes]
rs11831099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12311362	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12319480	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12370222	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1473652	0.89[ASN][1000 genomes]
rs1875060	0.91[ASN][1000 genomes]
rs1880557	0.91[ASN][1000 genomes]
rs1909510	0.91[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs2133541	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2173572	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2389101	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4438130	0.91[ASN][1000 genomes]
rs4931648	0.93[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs56397387	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61652801	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67940080	0.91[ASN][1000 genomes]
rs7135744	0.80[ASN][1000 genomes]
rs7306183	0.82[ASN][1000 genomes]
rs7306370	0.91[ASN][1000 genomes]
rs7306976	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7962152	0.84[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs7966020	0.92[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs7970584	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7980205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999840	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs999841	0.86[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:97 , 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	chr12:32762800-32799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:32765800-32797000	Strong transcription	Adipose Nuclei	Adipose
17	chr12:32767400-32797000	Weak transcription	Psoas Muscle	Psoas
18	chr12:32768400-32799800	Weak transcription	NHDF-Ad	bronchial
19	chr12:32771400-32796200	Strong transcription	Fetal Intestine Large	intestine
20	chr12:32772600-32796000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:32772600-32800000	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr12:32776400-32796000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:32776600-32798400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:32777000-32800200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:32778800-32800400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:32779600-32800400	Weak transcription	Small Intestine	intestine
27	chr12:32782000-32810600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:32784200-32799600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:32784600-32795800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:32784600-32796000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:32784600-32796000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:32785200-32795000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:32785800-32799800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:32786200-32796000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:32789000-32798000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:32790400-32798000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr12:32790600-32795400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:32790600-32796200	Strong transcription	HUVEC	blood vessel
39	chr12:32790600-32799800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:32790800-32795800	Strong transcription	HSMMtube	muscle
41	chr12:32790800-32798000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:32790800-32799600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:32791200-32796000	Strong transcription	HMEC	breast
44	chr12:32791200-32796600	Weak transcription	Fetal Brain Male	brain
45	chr12:32791200-32800200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:32791400-32797000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:32791800-32797600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:32793400-32797600	Weak transcription	Brain Germinal Matrix	brain
49	chr12:32793600-32795400	Weak transcription	Brain Anterior Caudate	brain
50	chr12:32793600-32797400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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