Variant report

Variant	rs12578337
Chromosome Location	chr12:45743709-45743710
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45734789..45737221-chr12:45742624..45745362,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10506261	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs11183000	1.00[ASW][hapmap];0.93[LWK][hapmap];0.81[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs11183001	0.93[AFR][1000 genomes]
rs11183004	0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs11183009	0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs11183012	0.93[AFR][1000 genomes]
rs11536237	0.91[AFR][1000 genomes]
rs11612531	0.84[YRI][hapmap]
rs12321278	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578593	0.91[AFR][1000 genomes]
rs12578601	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580991	0.93[AFR][1000 genomes]
rs12813734	0.90[AFR][1000 genomes]
rs12829496	0.93[AFR][1000 genomes]
rs1316280	0.93[AFR][1000 genomes]
rs17095779	1.00[TSI][hapmap]
rs17095830	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095855	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095858	1.00[TSI][hapmap]
rs17095860	1.00[TSI][hapmap]
rs17095861	1.00[TSI][hapmap]
rs17095884	1.00[TSI][hapmap]
rs1913694	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2081590	0.92[AFR][1000 genomes]
rs2408260	0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs34756223	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4583038	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56151528	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57121130	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57985291	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58282976	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58674935	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59166276	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59348316	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59604789	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60452259	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60688397	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132433	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138332	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138476	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7296058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7299292	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300016	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302256	0.84[ASW][hapmap]
rs7302635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7313617	0.90[AFR][1000 genomes]
rs9788104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788195	0.93[AFR][1000 genomes]
rs9788251	1.00[ASW][hapmap];0.93[LWK][hapmap];0.96[YRI][hapmap];0.93[AFR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
3	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:45709800-45743800	Weak transcription	Fetal Stomach	stomach
5	chr12:45722200-45744400	Weak transcription	Esophagus	oesophagus
6	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
8	chr12:45726600-45747200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:45734600-45747600	Weak transcription	Stomach Mucosa	stomach
10	chr12:45735400-45755200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:45737400-45748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:45737800-45744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:45737800-45744400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:45738000-45744000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:45738800-45754600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:45739000-45756000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:45739200-45752000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:45739400-45744000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:45739400-45744200	Weak transcription	Fetal Heart	heart
20	chr12:45739800-45746600	Strong transcription	Primary T cells from cord blood	blood
21	chr12:45740000-45747800	Strong transcription	Fetal Thymus	thymus
22	chr12:45740400-45743800	Strong transcription	Primary B cells from cord blood	blood
23	chr12:45740400-45744400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:45740400-45745600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:45740400-45745600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:45740400-45745800	Strong transcription	Left Ventricle	heart
27	chr12:45740400-45746000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:45740400-45746200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:45740400-45746200	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:45740400-45746600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:45740400-45747200	Strong transcription	Fetal Intestine Large	intestine
32	chr12:45740400-45755000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:45740600-45744000	Weak transcription	Aorta	Aorta
34	chr12:45740600-45744200	Strong transcription	Dnd41	blood
35	chr12:45740600-45745400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr12:45740600-45745600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:45740600-45745600	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:45740600-45745800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:45740600-45746000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:45740600-45746200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:45740800-45744000	Strong transcription	Primary hematopoietic stem cells	blood
42	chr12:45740800-45745800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:45740800-45748200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:45740800-45757600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:45741000-45744000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:45741000-45752000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:45741400-45745600	Strong transcription	HMEC	breast
48	chr12:45741400-45755400	Weak transcription	Brain Anterior Caudate	brain
49	chr12:45741600-45745200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:45741600-45745200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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