Variant report

Variant	rs12351220
Chromosome Location	chr9:79196762-79196763
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:79192767..79194309-chr9:79195465..79198348,2	K562	blood:
2	chr9:79193756..79195599-chr9:79196494..79199327,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10119518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10121652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10123325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10521473	1.00[EUR][1000 genomes]
rs11144991	1.00[EUR][1000 genomes]
rs11144993	1.00[EUR][1000 genomes]
rs12336287	1.00[EUR][1000 genomes]
rs12337785	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12340696	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12342460	1.00[EUR][1000 genomes]
rs12344065	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12345816	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1346041	1.00[EUR][1000 genomes]
rs17062959	1.00[EUR][1000 genomes]
rs17062964	1.00[EUR][1000 genomes]
rs17062967	1.00[EUR][1000 genomes]
rs17081141	1.00[EUR][1000 genomes]
rs17081142	1.00[EUR][1000 genomes]
rs2015354	1.00[EUR][1000 genomes]
rs28470485	1.00[EUR][1000 genomes]
rs28576740	1.00[EUR][1000 genomes]
rs28587388	1.00[EUR][1000 genomes]
rs28635278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4531113	1.00[TSI][hapmap]
rs55725331	1.00[EUR][1000 genomes]
rs55825540	1.00[EUR][1000 genomes]
rs56026497	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56143215	1.00[EUR][1000 genomes]
rs56145880	1.00[EUR][1000 genomes]
rs56679509	1.00[EUR][1000 genomes]
rs57802610	1.00[EUR][1000 genomes]
rs60467484	1.00[EUR][1000 genomes]
rs6560530	1.00[EUR][1000 genomes]
rs7044442	1.00[EUR][1000 genomes]
rs73449878	1.00[EUR][1000 genomes]
rs73449890	1.00[EUR][1000 genomes]
rs73449896	1.00[EUR][1000 genomes]
rs73452104	1.00[EUR][1000 genomes]
rs73454158	1.00[EUR][1000 genomes]
rs73650254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73650286	1.00[EUR][1000 genomes]
rs73650287	1.00[EUR][1000 genomes]
rs73650987	1.00[EUR][1000 genomes]
rs73650989	1.00[EUR][1000 genomes]
rs73650990	1.00[EUR][1000 genomes]
rs73650991	1.00[EUR][1000 genomes]
rs73650992	1.00[EUR][1000 genomes]
rs73650994	1.00[EUR][1000 genomes]
rs73650996	1.00[EUR][1000 genomes]
rs73650997	1.00[EUR][1000 genomes]
rs73650998	1.00[EUR][1000 genomes]
rs73650999	1.00[EUR][1000 genomes]
rs73651000	1.00[EUR][1000 genomes]
rs73651001	1.00[EUR][1000 genomes]
rs7848842	1.00[EUR][1000 genomes]
rs7850310	1.00[EUR][1000 genomes]
rs7855826	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7867080	1.00[EUR][1000 genomes]
rs7875591	1.00[EUR][1000 genomes]
rs867646	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv893480	chr9:79115844-79222584	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79187000-79200800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:79188000-79197000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr9:79188800-79197000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr9:79189200-79198200	Weak transcription	Gastric	stomach
5	chr9:79189800-79199400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:79189800-79200400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:79191800-79196800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:79192600-79218400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:79193000-79206200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:79193800-79200400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:79194200-79205800	Weak transcription	Osteobl	bone
12	chr9:79194800-79196800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:79195800-79202600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr9:79195800-79205800	Weak transcription	Primary B cells from cord blood	blood
15	chr9:79196000-79198200	Enhancers	Fetal Intestine Large	intestine
16	chr9:79196000-79199200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr9:79196000-79199400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr9:79196400-79198200	Enhancers	Fetal Intestine Small	intestine
19	chr9:79196600-79196800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr9:79196600-79197000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:79196600-79197000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr9:79196600-79197000	Enhancers	Ovary	ovary
23	chr9:79196600-79197000	Enhancers	Stomach Mucosa	stomach
24	chr9:79196600-79197200	Enhancers	Pancreas	Pancrea

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