Variant report

Variant	rs12315090
Chromosome Location	chr12:10792220-10792221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10792092..10793858-chr12:10796238..10798628,2	K562	blood:
2	chr12:10765292..10767533-chr12:10791937..10793518,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111196	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11053888	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11053890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11053891	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11836109	0.90[AMR][1000 genomes]
rs11836264	0.90[AMR][1000 genomes]
rs12297620	0.82[AFR][1000 genomes]
rs12299672	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302213	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12304304	0.82[AFR][1000 genomes]
rs12304656	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311784	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315191	1.00[EUR][1000 genomes]
rs12319401	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321785	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322680	0.82[AFR][1000 genomes]
rs2198964	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4763212	1.00[EUR][1000 genomes]
rs55785135	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56801111	0.81[AMR][1000 genomes]
rs57025730	0.81[AMR][1000 genomes]
rs57035205	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58067632	0.81[AMR][1000 genomes]
rs58677311	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59613394	0.90[AMR][1000 genomes]
rs60400937	0.81[AMR][1000 genomes]
rs60461379	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61473048	0.90[AMR][1000 genomes]
rs73252005	0.81[AMR][1000 genomes]
rs73254038	0.81[AMR][1000 genomes]
rs73256092	1.00[EUR][1000 genomes]
rs74060455	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74060471	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060473	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7968001	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10766600-10794400	Weak transcription	Gastric	stomach
2	chr12:10785400-10792600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:10787000-10793800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:10787600-10794000	Weak transcription	NHEK	skin
5	chr12:10787600-10794200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:10787600-10794200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:10787800-10792800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:10787800-10794000	Weak transcription	HMEC	breast
9	chr12:10787800-10797800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:10788000-10792400	Weak transcription	Osteobl	bone
11	chr12:10788000-10794000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:10788000-10794400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:10788600-10797400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:10788800-10792600	Weak transcription	NHDF-Ad	bronchial
15	chr12:10788800-10793400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:10789800-10793800	Weak transcription	Placenta	Placenta
17	chr12:10789800-10794000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:10789800-10794000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:10789800-10794000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:10789800-10795000	Enhancers	Stomach Mucosa	stomach
21	chr12:10790600-10799200	Weak transcription	Esophagus	oesophagus
22	chr12:10791400-10793200	Genic enhancers	HUVEC	blood vessel
23	chr12:10791400-10794000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:10791800-10792800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:10792200-10792600	Weak transcription	Rectal Mucosa Donor 31	rectum

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