Variant report

Variant	rs7960296
Chromosome Location	chr12:106326260-106326261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106252103..106254778-chr12:106324324..106327304,2	MCF-7	breast:
2	chr12:106290453..106292441-chr12:106325256..106328012,2	MCF-7	breast:
3	chr12:106319277..106321862-chr12:106325653..106327351,2	MCF-7	breast:
4	chr12:106315789..106319466-chr12:106324083..106326577,3	MCF-7	breast:
5	chr12:106252576..106257330-chr12:106324880..106330173,10	MCF-7	breast:
6	chr12:106325602..106327976-chr12:106491240..106494183,2	MCF-7	breast:
7	chr12:106322923..106333063-chr12:106528610..106534226,20	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10507203	0.86[EUR][1000 genomes]
rs10861526	0.84[EUR][1000 genomes]
rs10861527	0.84[EUR][1000 genomes]
rs10861530	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs10861531	0.84[EUR][1000 genomes]
rs11112776	0.84[EUR][1000 genomes]
rs11112789	0.87[EUR][1000 genomes]
rs11112791	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11615749	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12301955	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12302909	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12307410	0.86[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367295	0.84[EUR][1000 genomes]
rs12368539	0.84[EUR][1000 genomes]
rs12423582	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12426023	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1345544	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1345545	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1421441	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs1421464	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1421467	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1541629	0.87[EUR][1000 genomes]
rs17278606	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1862027	0.84[EUR][1000 genomes]
rs1862028	0.84[EUR][1000 genomes]
rs2374559	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2374561	0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28635481	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4620812	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7133626	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7297930	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7300496	0.84[EUR][1000 genomes]
rs7300906	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7300926	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305359	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73387048	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7960880	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7964927	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7968454	0.83[EUR][1000 genomes]
rs7968564	0.84[EUR][1000 genomes]
rs7980152	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106317000-106327600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:106321200-106327600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:106322200-106327600	Weak transcription	HSMM	muscle
4	chr12:106323200-106326800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:106324000-106326400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:106324200-106326400	Enhancers	Fetal Muscle Leg	muscle
7	chr12:106324400-106326400	Enhancers	Fetal Lung	lung
8	chr12:106324400-106326400	Genic enhancers	HSMMtube	muscle
9	chr12:106324400-106327800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:106324400-106327800	Enhancers	NHEK	skin
11	chr12:106324600-106327800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:106324600-106327800	Weak transcription	Brain Substantia Nigra	brain
13	chr12:106324600-106332000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:106324800-106326400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:106324800-106327600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:106324800-106327800	Weak transcription	Brain Anterior Caudate	brain
17	chr12:106324800-106332200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:106324800-106332400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:106325000-106326400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:106325000-106327200	Weak transcription	HUVEC	blood vessel
21	chr12:106325000-106327600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:106325000-106327600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:106325000-106327600	Weak transcription	Psoas Muscle	Psoas
24	chr12:106325000-106327800	Weak transcription	Right Ventricle	heart
25	chr12:106325000-106329000	Weak transcription	Left Ventricle	heart
26	chr12:106325000-106329800	Weak transcription	Right Atrium	heart
27	chr12:106325200-106326600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:106325200-106326600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:106325200-106327600	Weak transcription	A549	lung
30	chr12:106325200-106332400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:106325400-106326400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:106325400-106326400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:106325400-106327400	Weak transcription	Hela-S3	cervix
34	chr12:106325400-106327800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:106325400-106336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:106325600-106335200	Enhancers	HMEC	breast
37	chr12:106325800-106326400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:106325800-106326400	Weak transcription	Aorta	Aorta
39	chr12:106325800-106326400	Enhancers	Fetal Muscle Trunk	muscle
40	chr12:106325800-106326600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:106325800-106326800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr12:106326000-106326400	Enhancers	Lung	lung
43	chr12:106326000-106326600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:106326200-106326400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:106326200-106326400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:106326200-106326400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:106326200-106326400	Enhancers	Fetal Stomach	stomach
48	chr12:106326200-106327600	Weak transcription	Esophagus	oesophagus
49	chr12:106326200-106327800	Weak transcription	Brain Germinal Matrix	brain

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