Variant report

Variant	rs58573414
Chromosome Location	chr12:117370442-117370443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117364974..117366703-chr12:117369746..117372327,2	MCF-7	breast:
2	chr12:117369008..117371802-chr12:117372806..117375152,2	K562	blood:
3	chr12:117369126..117371183-chr12:117378864..117381589,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57767543	1.00[AFR][1000 genomes]
rs60066066	1.00[AFR][1000 genomes]
rs61254876	1.00[AFR][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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:117350200-117371000	Weak transcription	Right Ventricle	heart
3	chr12:117350600-117370600	Weak transcription	Fetal Brain Male	brain
4	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
5	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
6	chr12:117358800-117374000	Weak transcription	Colonic Mucosa	Colon
7	chr12:117363200-117371200	Weak transcription	Stomach Mucosa	stomach
8	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:117363400-117373400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:117363400-117375200	Weak transcription	HMEC	breast
11	chr12:117363400-117381000	Weak transcription	NHEK	skin
12	chr12:117363400-117381400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:117363400-117385000	Weak transcription	HUVEC	blood vessel
14	chr12:117363600-117375000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:117363800-117371000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:117363800-117374000	Weak transcription	Thymus	Thymus
17	chr12:117364000-117371800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:117364000-117372000	Strong transcription	Primary B cells from cord blood	blood
19	chr12:117364200-117372600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:117364800-117372800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:117364800-117374000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:117365000-117370800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:117365000-117371000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:117365000-117371000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:117365000-117383200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:117365000-117383400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:117365200-117371000	Weak transcription	Brain Substantia Nigra	brain
29	chr12:117365200-117371200	Weak transcription	Brain Angular Gyrus	brain
30	chr12:117365400-117371000	Weak transcription	Psoas Muscle	Psoas
31	chr12:117365600-117370600	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:117365600-117370800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:117365600-117371000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:117365600-117372000	Weak transcription	Right Atrium	heart
35	chr12:117365800-117381200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr12:117365800-117383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:117366000-117370800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:117366000-117371000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:117366000-117375600	Strong transcription	Primary T cells from cord blood	blood
40	chr12:117366200-117377600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:117366600-117370600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:117366600-117370800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:117366600-117373000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:117366600-117373400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:117366600-117374000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:117366600-117374000	Weak transcription	NHDF-Ad	bronchial
47	chr12:117366600-117381000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:117366600-117381200	Weak transcription	Liver	Liver
49	chr12:117366600-117381400	Weak transcription	Aorta	Aorta
50	chr12:117366600-117383200	Weak transcription	H9 Cell Line	embryonic stem cell

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