Variant report

Variant	rs17095784
Chromosome Location	chr12:45742621-45742622
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	chr12:45742005..45743566-chr12:45762222..45763999,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1025088	1.00[CEU][hapmap];0.81[CHD][hapmap]
rs10492285	1.00[CEU][hapmap]
rs10736024	1.00[CEU][hapmap]
rs10785564	1.00[CEU][hapmap]
rs11182980	1.00[CEU][hapmap]
rs12578188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578220	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs12578314	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12578638	0.83[CHB][hapmap]
rs12578982	1.00[AMR][1000 genomes]
rs12579080	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12580208	1.00[AMR][1000 genomes]
rs12580320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12580810	0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12581525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12581841	1.00[AMR][1000 genomes]
rs12582025	1.00[AMR][1000 genomes]
rs12582369	1.00[CEU][hapmap]
rs17095584	1.00[CEU][hapmap]
rs17095688	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17095706	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17095713	1.00[CEU][hapmap]
rs17095716	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17095721	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17095722	1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17095723	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17095736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17095866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17095888	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17095911	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1896027	1.00[CEU][hapmap]
rs2037856	1.00[CEU][hapmap]
rs2037857	1.00[CEU][hapmap]
rs2081592	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34066087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759079	1.00[AMR][1000 genomes]
rs3920257	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41331147	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs4583038	0.83[CHB][hapmap]
rs4768087	1.00[CEU][hapmap]
rs4768600	1.00[CEU][hapmap]
rs4768606	1.00[CEU][hapmap];0.81[CHD][hapmap]
rs60457106	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6582542	1.00[CEU][hapmap]
rs7135029	1.00[CEU][hapmap]
rs7136281	1.00[CEU][hapmap];0.81[CHD][hapmap]
rs7294399	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7296058	0.83[CHB][hapmap]
rs7304389	1.00[CEU][hapmap];0.81[CHD][hapmap]
rs7304749	1.00[CEU][hapmap];0.81[CHD][hapmap]
rs73281585	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74080884	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7486228	1.00[AMR][1000 genomes]
rs9788104	0.83[CHB][hapmap]

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:119 , 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	chr12:45700000-45743600	Weak transcription	Gastric	stomach
5	chr12:45701400-45743400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:45709200-45743600	Weak transcription	Spleen	Spleen
7	chr12:45709800-45743800	Weak transcription	Fetal Stomach	stomach
8	chr12:45720600-45743600	Weak transcription	Lung	lung
9	chr12:45722200-45744400	Weak transcription	Esophagus	oesophagus
10	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
12	chr12:45726000-45743400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:45726600-45747200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:45726800-45743400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:45733000-45743400	Weak transcription	Ovary	ovary
16	chr12:45734600-45747600	Weak transcription	Stomach Mucosa	stomach
17	chr12:45735400-45755200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:45737400-45748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:45737600-45743400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:45737800-45743000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:45737800-45743400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:45737800-45743400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:45737800-45743600	Weak transcription	Right Ventricle	heart
24	chr12:45737800-45744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:45737800-45744400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:45738000-45744000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:45738800-45743600	Weak transcription	Fetal Intestine Small	intestine
28	chr12:45738800-45754600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:45739000-45756000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:45739200-45752000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:45739400-45744000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:45739400-45744200	Weak transcription	Fetal Heart	heart
33	chr12:45739800-45746600	Strong transcription	Primary T cells from cord blood	blood
34	chr12:45740000-45747800	Strong transcription	Fetal Thymus	thymus
35	chr12:45740400-45743400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:45740400-45743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:45740400-45743800	Strong transcription	Primary B cells from cord blood	blood
38	chr12:45740400-45744400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:45740400-45745600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:45740400-45745600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:45740400-45745800	Strong transcription	Left Ventricle	heart
42	chr12:45740400-45746000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:45740400-45746200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:45740400-45746200	Strong transcription	Fetal Muscle Leg	muscle
45	chr12:45740400-45746600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:45740400-45747200	Strong transcription	Fetal Intestine Large	intestine
47	chr12:45740400-45755000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:45740600-45743400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:45740600-45743400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:45740600-45743600	Strong transcription	Thymus	Thymus

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