Variant report

Variant	rs12312486
Chromosome Location	chr12:105736625-105736626
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	chr12:105734973..105737533-chr12:105761292..105763629,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10861404	0.94[ASN][1000 genomes]
rs1344778	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17188203	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4246251	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4964360	0.95[ASN][1000 genomes]
rs61939073	0.99[ASN][1000 genomes]
rs715167	0.83[ASN][1000 genomes]
rs7295277	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73401756	0.97[ASN][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	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105725600-105747200	Weak transcription	Gastric	stomach
2	chr12:105727800-105737200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:105729800-105736800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:105729800-105749400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:105730000-105737400	Weak transcription	NH-A	brain
6	chr12:105730600-105755400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:105734800-105737600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:105734800-105744000	Weak transcription	Thymus	Thymus
9	chr12:105734800-105744000	Weak transcription	HSMMtube	muscle
10	chr12:105734800-105750200	Weak transcription	Primary T cells from cord blood	blood
11	chr12:105734800-105750800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:105734800-105776600	Weak transcription	Esophagus	oesophagus
13	chr12:105735000-105737000	Weak transcription	NHDF-Ad	bronchial
14	chr12:105735000-105737600	Weak transcription	HSMM	muscle
15	chr12:105735000-105776600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:105735200-105738200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:105735200-105750800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:105735400-105737800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:105735400-105741000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr12:105735400-105742800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:105735400-105756800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:105735600-105736800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:105735600-105737400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:105735600-105738400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:105735600-105740800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:105735600-105742200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:105735600-105743800	Weak transcription	Aorta	Aorta
28	chr12:105735600-105744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:105735600-105744000	Weak transcription	NHEK	skin
30	chr12:105735600-105745400	Weak transcription	Fetal Thymus	thymus
31	chr12:105735600-105746200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:105735600-105749200	Weak transcription	HMEC	breast
33	chr12:105735600-105750600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:105735600-105753800	Weak transcription	Fetal Stomach	stomach
35	chr12:105735600-105766800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:105735600-105776600	Weak transcription	Fetal Intestine Small	intestine
37	chr12:105735800-105737600	Weak transcription	Primary B cells from cord blood	blood
38	chr12:105735800-105743200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:105736200-105737200	Genic enhancers	A549	lung
40	chr12:105736200-105738200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:105736200-105738200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:105736200-105741000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:105736200-105745400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:105736200-105749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:105736400-105737200	Enhancers	NHLF	lung
46	chr12:105736400-105737400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:105736400-105738200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr12:105736600-105737000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:105736600-105737600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:105736600-105737600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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