Variant report

Variant	rs60190629
Chromosome Location	chr12:9273963-9273964
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	chr12:9215493..9217658-chr12:9271346..9273980,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16917975	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16918033	1.00[AMR][1000 genomes]
rs16918120	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16918292	1.00[AMR][1000 genomes]
rs1805748	1.00[AMR][1000 genomes]
rs1805764	1.00[AMR][1000 genomes]
rs1805769	1.00[AMR][1000 genomes]
rs56966204	1.00[AMR][1000 genomes]
rs58537365	1.00[AMR][1000 genomes]
rs59792548	1.00[AMR][1000 genomes]
rs7297635	1.00[AMR][1000 genomes]
rs7304882	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060300	1.00[AMR][1000 genomes]
rs74060302	1.00[AMR][1000 genomes]
rs74060475	1.00[AMR][1000 genomes]
rs74060477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060491	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061403	1.00[AMR][1000 genomes]
rs74061408	1.00[AMR][1000 genomes]
rs74061444	1.00[AMR][1000 genomes]
rs7980046	1.00[AMR][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9243000-9274800	Weak transcription	Small Intestine	intestine
2	chr12:9262800-9289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:9266200-9274800	Weak transcription	Gastric	stomach
4	chr12:9268400-9274400	Weak transcription	Fetal Intestine Large	intestine
5	chr12:9269000-9277400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:9269000-9280400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:9269000-9319200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:9269200-9275800	Weak transcription	Brain Angular Gyrus	brain
9	chr12:9269200-9280400	Weak transcription	Primary T cells from cord blood	blood
10	chr12:9269200-9281800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:9269400-9274800	Weak transcription	Brain Substantia Nigra	brain
12	chr12:9269400-9276000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:9269400-9276400	Weak transcription	Right Ventricle	heart
14	chr12:9269800-9274400	Enhancers	HepG2	liver
15	chr12:9269800-9276000	Weak transcription	Brain Anterior Caudate	brain
16	chr12:9270000-9276000	Weak transcription	Fetal Stomach	stomach
17	chr12:9270000-9278800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:9270200-9274800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:9270200-9289000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:9271000-9276000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:9271000-9276200	Weak transcription	Ovary	ovary
22	chr12:9271200-9275800	Weak transcription	Right Atrium	heart
23	chr12:9271200-9276800	Weak transcription	Psoas Muscle	Psoas
24	chr12:9271200-9276800	Weak transcription	Spleen	Spleen
25	chr12:9271400-9274400	Enhancers	Fetal Lung	lung
26	chr12:9271600-9274600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:9271600-9274800	Weak transcription	NHLF	lung
28	chr12:9271600-9276000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:9271800-9276200	Weak transcription	HMEC	breast
30	chr12:9271800-9280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:9272000-9275200	Flanking Active TSS	Liver	Liver
32	chr12:9272000-9289000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:9272200-9276000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:9272200-9280200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:9272200-9282400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:9272400-9274600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:9272800-9276000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr12:9272800-9276200	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:9273400-9276200	Weak transcription	Adipose Nuclei	Adipose
40	chr12:9273600-9274800	Weak transcription	Aorta	Aorta
41	chr12:9273800-9274600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:9273800-9274600	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:9273800-9277000	Weak transcription	Left Ventricle	heart

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