Variant report

Variant	rs73125302
Chromosome Location	chr12:56540319-56540320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56531111..56535117-chr12:56537564..56540516,4	MCF-7	breast:
2	chr12:56536295..56538828-chr12:56539736..56542109,5	MCF-7	breast:
3	chr12:56508092..56528020-chr12:56536122..56568603,201	MCF-7	breast:
4	chr12:56518356..56534331-chr12:56534720..56548698,49	MCF-7	breast:
5	chr12:56539238..56542152-chr12:56582428..56583996,2	MCF-7	breast:
6	chr10:80465379..80466144-chr12:56540228..56541004,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258317	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000258345	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73125228	1.00[AMR][1000 genomes]

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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56528200-56545200	Weak transcription	Stomach Mucosa	stomach
2	chr12:56532000-56545400	Weak transcription	Fetal Brain Male	brain
3	chr12:56532800-56545000	Weak transcription	Psoas Muscle	Psoas
4	chr12:56536400-56540600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:56537200-56545200	Weak transcription	Brain Substantia Nigra	brain
6	chr12:56537200-56545600	Weak transcription	Small Intestine	intestine
7	chr12:56537600-56544000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:56538000-56540600	Weak transcription	Fetal Kidney	kidney
9	chr12:56538200-56545200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:56538400-56545200	Weak transcription	Brain Anterior Caudate	brain
11	chr12:56538400-56545600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:56538800-56545200	Weak transcription	Brain Angular Gyrus	brain
13	chr12:56538800-56545200	Weak transcription	Fetal Brain Female	brain
14	chr12:56538800-56545400	Weak transcription	Right Atrium	heart
15	chr12:56539000-56540400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:56539000-56540600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:56539000-56540600	Weak transcription	HSMMtube	muscle
18	chr12:56539000-56541000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:56539000-56542400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:56539000-56544000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:56539000-56544200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:56539000-56544400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:56539000-56544600	Weak transcription	Dnd41	blood
24	chr12:56539000-56545200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:56539000-56545200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:56539000-56545200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:56539000-56545200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:56539000-56545200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:56539000-56545200	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:56539000-56545200	Weak transcription	Gastric	stomach
31	chr12:56539000-56545200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:56539000-56545200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:56539000-56545200	Weak transcription	Spleen	Spleen
34	chr12:56539000-56545400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:56539000-56545400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:56539000-56545400	Weak transcription	Lung	lung
37	chr12:56539000-56545400	Weak transcription	Right Ventricle	heart
38	chr12:56539000-56545600	Weak transcription	Aorta	Aorta
39	chr12:56539200-56540400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:56539200-56540600	Weak transcription	Fetal Stomach	stomach
41	chr12:56539200-56540600	Weak transcription	Osteobl	bone
42	chr12:56539200-56543600	Weak transcription	Primary B cells from cord blood	blood
43	chr12:56539200-56544000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:56539200-56544000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr12:56539200-56544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:56539200-56544600	Weak transcription	HepG2	liver
47	chr12:56539200-56545000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:56539200-56545000	Weak transcription	Left Ventricle	heart
49	chr12:56539200-56545200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:56539200-56545200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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