Variant report

Variant	rs73287550
Chromosome Location	chr12:12595067-12595068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12590405..12593794-chr12:12593958..12596387,3	MCF-7	breast:
2	chr12:12593955..12596511-chr12:12738215..12739887,2	MCF-7	breast:
3	chr12:12594582..12598614-chr12:12600481..12604032,6	MCF-7	breast:
4	chr12:12584022..12586208-chr12:12592875..12596434,3	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58773479	1.00[AFR][1000 genomes]
rs59281713	1.00[AFR][1000 genomes]
rs73279374	0.90[AFR][1000 genomes]
rs73283439	1.00[AFR][1000 genomes]
rs73283452	1.00[AFR][1000 genomes]
rs73283472	1.00[AFR][1000 genomes]
rs73285542	1.00[AFR][1000 genomes]
rs73287536	0.90[AFR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12582600-12599400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:12582800-12596400	Weak transcription	Spleen	Spleen
3	chr12:12584000-12598600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:12585600-12595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:12585800-12595400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:12586200-12595400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:12587200-12595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:12587200-12596400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:12587200-12596400	Weak transcription	Gastric	stomach
10	chr12:12587400-12595400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:12587400-12595400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:12587400-12595800	Weak transcription	Fetal Stomach	stomach
13	chr12:12587400-12600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:12587400-12600200	Weak transcription	Ovary	ovary
15	chr12:12588000-12595800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:12588400-12595400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:12588600-12599400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:12589400-12595600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:12589800-12607200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:12590000-12599400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:12590400-12599200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:12590400-12601800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:12590600-12599600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:12590600-12614600	Weak transcription	Primary B cells from cord blood	blood
25	chr12:12590800-12599600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr12:12591800-12596800	Enhancers	NHEK	skin
27	chr12:12592000-12595800	Enhancers	HUVEC	blood vessel
28	chr12:12592000-12596200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:12592000-12596600	Enhancers	HepG2	liver
30	chr12:12592000-12596800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:12592000-12597000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr12:12592000-12598400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:12592200-12597000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:12592200-12600400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:12592200-12602200	Enhancers	Fetal Thymus	thymus
36	chr12:12592400-12595200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr12:12592400-12597600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:12592600-12595400	Enhancers	A549	lung
39	chr12:12592600-12598200	Enhancers	Stomach Mucosa	stomach
40	chr12:12592800-12598200	Enhancers	Fetal Lung	lung
41	chr12:12593000-12596800	Enhancers	Primary T cells from cord blood	blood
42	chr12:12593000-12597000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:12593200-12596000	Enhancers	Small Intestine	intestine
44	chr12:12593200-12596200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:12593200-12597600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:12593600-12596800	Enhancers	Fetal Heart	heart
47	chr12:12593800-12595200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr12:12593800-12595200	Enhancers	GM12878-XiMat	blood
49	chr12:12593800-12595600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr12:12593800-12595600	Enhancers	Osteobl	bone

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