Variant report

Variant	rs10876159
Chromosome Location	chr12:51660854-51660855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51640991..51642656-chr12:51660376..51662126,2	K562	blood:
2	chr12:51659450..51661628-chr12:51662335..51664911,2	K562	blood:
3	chr12:51659052..51661518-chr12:51662448..51664398,3	MCF-7	breast:
4	chr12:51475983..51478728-chr12:51659911..51661636,2	MCF-7	breast:
5	chr12:51653853..51656568-chr12:51660091..51661870,2	MCF-7	breast:
6	chr12:51659542..51662087-chr12:51665663..51667547,2	MCF-7	breast:
7	chr12:51659170..51661395-chr12:51662103..51664088,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction
ENSG00000170545	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10747609	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783426	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783427	0.86[AMR][1000 genomes]
rs10783428	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10876157	0.91[ASN][1000 genomes]
rs1877260	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1877261	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1975004	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2271821	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2359449	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2884709	0.85[ASN][1000 genomes]
rs3886185	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3951438	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4761814	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4761815	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4761935	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4761938	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4761966	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4761969	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4761981	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4761995	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4991750	0.83[AMR][1000 genomes]
rs6580820	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7133495	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7136290	0.81[AMR][1000 genomes]
rs7296747	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7304578	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7311434	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7316347	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7316569	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7957667	0.81[AMR][1000 genomes]
rs9325148	0.83[AMR][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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51638400-51662800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:51639800-51662800	Weak transcription	Fetal Stomach	stomach
3	chr12:51640200-51662800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:51640200-51662800	Weak transcription	Pancreas	Pancrea
5	chr12:51640400-51661600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:51640600-51661800	Weak transcription	NH-A	brain
7	chr12:51641600-51663000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:51642000-51662800	Weak transcription	NHLF	lung
9	chr12:51642200-51661000	Weak transcription	Colonic Mucosa	Colon
10	chr12:51642200-51662800	Weak transcription	Gastric	stomach
11	chr12:51642200-51662800	Weak transcription	Right Ventricle	heart
12	chr12:51642200-51663000	Weak transcription	Lung	lung
13	chr12:51642400-51662800	Weak transcription	Primary B cells from cord blood	blood
14	chr12:51642600-51662600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:51643000-51662600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:51643200-51662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:51645200-51661800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:51648800-51662600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:51649400-51661400	Weak transcription	Esophagus	oesophagus
20	chr12:51649400-51662800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:51651000-51662800	Weak transcription	Liver	Liver
22	chr12:51651400-51662800	Weak transcription	Fetal Intestine Large	intestine
23	chr12:51653400-51663400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:51654200-51662800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:51656800-51662800	Weak transcription	Ovary	ovary
26	chr12:51656800-51662800	Weak transcription	Spleen	Spleen
27	chr12:51657000-51661600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:51657000-51662200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:51657000-51662800	Weak transcription	Adipose Nuclei	Adipose
30	chr12:51657000-51662800	Weak transcription	A549	lung
31	chr12:51657200-51662800	Weak transcription	Hela-S3	cervix
32	chr12:51657400-51661600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:51657400-51661600	Weak transcription	HSMM	muscle
34	chr12:51657400-51661800	Weak transcription	Osteobl	bone
35	chr12:51657600-51661600	Weak transcription	HUVEC	blood vessel
36	chr12:51657600-51661600	Weak transcription	NHDF-Ad	bronchial
37	chr12:51657600-51662800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:51658000-51662600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:51658800-51662400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:51659200-51662600	Weak transcription	Dnd41	blood
41	chr12:51659200-51662800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:51659400-51661200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:51659400-51661600	Weak transcription	HMEC	breast
44	chr12:51659400-51662800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:51659400-51662800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:51659400-51663000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:51659600-51661600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:51659600-51661600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:51659600-51661600	Weak transcription	NHEK	skin
50	chr12:51659600-51662200	Weak transcription	HepG2	liver

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