Variant report

Variant	rs73295573
Chromosome Location	chr12:47628393-47628394
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	chr12:47470563..47472586-chr12:47627507..47630437,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11183817	1.00[EUR][1000 genomes]
rs12296357	1.00[EUR][1000 genomes]
rs12296625	1.00[EUR][1000 genomes]
rs12297876	1.00[EUR][1000 genomes]
rs12298308	1.00[EUR][1000 genomes]
rs12299244	1.00[EUR][1000 genomes]
rs12322626	1.00[EUR][1000 genomes]
rs17097565	1.00[EUR][1000 genomes]
rs17097665	1.00[EUR][1000 genomes]
rs17097666	1.00[EUR][1000 genomes]
rs58782672	1.00[EUR][1000 genomes]
rs73293901	1.00[EUR][1000 genomes]
rs73295559	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
2	chr12:47601800-47628400	Weak transcription	Esophagus	oesophagus
3	chr12:47610400-47628400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:47612400-47628400	Weak transcription	Placenta	Placenta
5	chr12:47617200-47628400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:47617200-47628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:47617200-47629000	Weak transcription	NHEK	skin
8	chr12:47617800-47628400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:47617800-47628400	Weak transcription	Spleen	Spleen
10	chr12:47617800-47629400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:47617800-47631600	Weak transcription	Small Intestine	intestine
12	chr12:47617800-47632800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:47618000-47628400	Weak transcription	HMEC	breast
14	chr12:47618000-47629000	Weak transcription	Adipose Nuclei	Adipose
15	chr12:47618000-47629400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:47618600-47630000	Weak transcription	HSMM	muscle
17	chr12:47618600-47638600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:47619000-47628400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:47619000-47632800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:47619000-47643600	Weak transcription	Pancreas	Pancrea
21	chr12:47620200-47630200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:47620200-47632800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:47621200-47628400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:47623400-47631600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:47624200-47630000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:47625600-47629800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:47625600-47631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:47625800-47628400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr12:47625800-47628800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:47625800-47628800	Weak transcription	Fetal Intestine Small	intestine
31	chr12:47625800-47628800	Genic enhancers	A549	lung
32	chr12:47625800-47629400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:47625800-47630000	Weak transcription	HSMMtube	muscle
34	chr12:47625800-47630400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:47626000-47628800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:47626200-47628800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:47626600-47630600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:47626800-47630200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:47626800-47631000	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr12:47627000-47628400	Weak transcription	Lung	lung
41	chr12:47627000-47628600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:47627200-47630200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:47627200-47630400	Strong transcription	Primary B cells from cord blood	blood
44	chr12:47627400-47630200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:47627600-47628600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:47627600-47628800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:47627600-47629800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:47627600-47630000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:47627600-47632400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:47627600-47632600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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