Variant report

Variant	rs226381
Chromosome Location	chr12:9267559-9267560
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	chr12:9265907..9267822-chr12:9274659..9276392,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10743598	0.92[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[GIH][hapmap];0.85[LWK][hapmap];0.86[MKK][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10771308	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10771357	0.90[JPT][hapmap]
rs10842839	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10842849	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11048839	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs113973	0.92[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805682	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2114851	0.90[JPT][hapmap]
rs2193006	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2216143	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs226369	0.91[JPT][hapmap]
rs226370	0.91[JPT][hapmap]
rs226372	0.90[JPT][hapmap]
rs226375	0.80[ASN][1000 genomes]
rs226376	0.91[JPT][hapmap]
rs226380	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226386	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs226387	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs226388	0.92[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs226389	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs226390	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs226391	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs226392	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs226394	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs226400	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs226401	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs226403	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs226408	0.92[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs226415	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3759276	0.90[JPT][hapmap]
rs3759277	1.00[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4882977	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4882981	0.88[JPT][hapmap]
rs6487584	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71453666	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7295733	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7297589	0.91[JPT][hapmap]
rs7964085	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7965790	1.00[CEU][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7976808	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS 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 miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3504674	chr12:9243858-9318016	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3502154	chr12:9243906-9317851	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3502155	chr12:9243906-9317851	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3504685	chr12:9243948-9317959	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9240800-9267600	Weak transcription	Fetal Intestine Large	intestine
2	chr12:9243000-9274800	Weak transcription	Small Intestine	intestine
3	chr12:9246600-9268600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:9249400-9268800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:9249600-9267600	Weak transcription	HSMMtube	muscle
6	chr12:9250600-9268200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:9250600-9268600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:9251400-9268200	Weak transcription	Pancreas	Pancrea
9	chr12:9252200-9268800	Weak transcription	Primary T cells from cord blood	blood
10	chr12:9252600-9268400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:9252600-9268400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:9254200-9267600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:9258400-9267600	Weak transcription	Placenta	Placenta
14	chr12:9260200-9267600	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:9262800-9289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:9264600-9269800	Active TSS	Brain Hippocampus Middle	brain
17	chr12:9264800-9268600	Weak transcription	Primary B cells from cord blood	blood
18	chr12:9264800-9269000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr12:9264800-9270200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:9265000-9268200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:9265000-9269000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:9265000-9269200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:9265000-9270000	Active TSS	Right Atrium	heart
24	chr12:9265200-9269200	Active TSS	Duodenum Mucosa	Duodenum
25	chr12:9265200-9269200	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr12:9265400-9269000	Active TSS	Fetal Muscle Leg	muscle
27	chr12:9265600-9267800	ZNF genes & repeats	Fetal Brain Male	brain
28	chr12:9265600-9268600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:9265800-9268400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:9265800-9269400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr12:9266000-9268200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:9266000-9268400	Weak transcription	Spleen	Spleen
33	chr12:9266000-9269400	Active TSS	Fetal Stomach	stomach
34	chr12:9266000-9269400	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr12:9266200-9268200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:9266200-9268400	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr12:9266200-9268600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:9266200-9268600	Active TSS	Adipose Nuclei	Adipose
39	chr12:9266200-9269000	Active TSS	Fetal Kidney	kidney
40	chr12:9266200-9270800	Active TSS	Stomach Smooth Muscle	stomach
41	chr12:9266200-9274800	Weak transcription	Gastric	stomach
42	chr12:9266400-9267600	Weak transcription	Fetal Heart	heart
43	chr12:9266400-9267600	Active TSS	HepG2	liver
44	chr12:9266400-9267600	Weak transcription	NHLF	lung
45	chr12:9266400-9268200	Weak transcription	Esophagus	oesophagus
46	chr12:9266400-9269400	Active TSS	Right Ventricle	heart
47	chr12:9266400-9270000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:9266400-9270800	Active TSS	Aorta	Aorta
49	chr12:9266600-9268400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:9266800-9267600	Weak transcription	Brain Angular Gyrus	brain

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