Variant report

Variant	rs12958093
Chromosome Location	chr18:9176047-9176048
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	chr18:9175098..9178757-chr18:9180431..9183034,3	K562	blood:
2	chr18:9135268..9138206-chr18:9174153..9176625,2	K562	blood:

Variant related genes	Relation type
ENSG00000101745	Chromatin interaction
ENSG00000266053	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10432145	0.90[AMR][1000 genomes]
rs11081465	0.83[ASN][1000 genomes]
rs11661711	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs12150725	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12954031	0.83[ASN][1000 genomes]
rs17413793	0.95[CEU][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1893198	0.90[ASN][1000 genomes]
rs2155707	0.90[CEU][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28418978	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34310409	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34452937	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4078337	1.00[CEU][hapmap]
rs4130178	0.81[ASN][1000 genomes]
rs4131992	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4148967	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs4603624	0.90[CEU][hapmap]
rs4797356	1.00[CEU][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4797359	0.80[ASN][1000 genomes]
rs4797361	0.94[ASN][1000 genomes]
rs4798766	0.85[CEU][hapmap]
rs4798776	0.94[CEU][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4798778	0.95[CEU][hapmap]
rs4798782	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4798783	0.82[ASN][1000 genomes]
rs4798784	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4798786	0.93[ASN][1000 genomes]
rs4798788	0.81[ASN][1000 genomes]
rs4798791	0.95[CEU][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56317320	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6506649	0.89[ASN][1000 genomes]
rs7228251	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs7229883	0.82[ASN][1000 genomes]
rs7232337	0.90[ASN][1000 genomes]
rs7235514	0.82[ASN][1000 genomes]
rs7240452	0.82[ASN][1000 genomes]
rs7504603	0.94[CEU][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs7505341	0.81[ASN][1000 genomes]
rs7506008	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7506291	0.96[ASN][1000 genomes]
rs7506347	0.81[AFR][1000 genomes]
rs8089693	0.93[ASN][1000 genomes]
rs8092613	0.82[ASN][1000 genomes]
rs8097848	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs894755	0.89[CEU][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9304033	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9304034	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9304036	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs977581	1.00[CEU][hapmap]
rs9944905	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9945360	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9946468	0.95[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9946475	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9946695	0.94[ASN][1000 genomes]
rs9946838	0.82[ASN][1000 genomes]
rs9946852	0.85[EUR][1000 genomes]
rs9947027	1.00[CEU][hapmap]
rs9948560	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9959998	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9960129	0.95[CEU][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9966631	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers 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 target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv131135	chr18:9175550-9176274	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9148400-9187200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr18:9153600-9182400	Weak transcription	Liver	Liver
3	chr18:9153600-9185000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr18:9157400-9182400	Weak transcription	HepG2	liver
5	chr18:9162200-9187800	Weak transcription	Thymus	Thymus
6	chr18:9164400-9200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:9165600-9183000	Weak transcription	Primary T cells from cord blood	blood
8	chr18:9165600-9195400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:9168400-9185600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr18:9170200-9181400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr18:9171400-9176600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr18:9171600-9177800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr18:9171600-9180800	Weak transcription	NHDF-Ad	bronchial
14	chr18:9171800-9177200	Weak transcription	HUVEC	blood vessel
15	chr18:9172000-9182200	Weak transcription	Fetal Lung	lung
16	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
17	chr18:9172200-9185000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr18:9172400-9187000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:9172600-9182200	Weak transcription	Dnd41	blood
20	chr18:9173000-9208400	Weak transcription	NHLF	lung
21	chr18:9173200-9182000	Weak transcription	Fetal Intestine Large	intestine
22	chr18:9173600-9176800	Enhancers	Left Ventricle	heart
23	chr18:9174000-9178400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr18:9174000-9182800	Weak transcription	Osteobl	bone
25	chr18:9174200-9191800	Weak transcription	Fetal Stomach	stomach
26	chr18:9174200-9192000	Weak transcription	HMEC	breast
27	chr18:9174400-9176200	Weak transcription	Small Intestine	intestine
28	chr18:9174400-9177000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr18:9174400-9179200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:9174400-9180000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:9174400-9180800	Weak transcription	K562	blood
32	chr18:9174400-9181000	Weak transcription	NHEK	skin
33	chr18:9174400-9182800	Weak transcription	HSMM	muscle
34	chr18:9174400-9183800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:9174400-9184000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr18:9174400-9191800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr18:9174600-9176200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr18:9174600-9176200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr18:9174600-9176200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr18:9174600-9176800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr18:9174600-9180800	Weak transcription	Brain Angular Gyrus	brain
42	chr18:9174600-9183000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:9174600-9183800	Weak transcription	Primary B cells from cord blood	blood
44	chr18:9174600-9184000	Weak transcription	Placenta	Placenta
45	chr18:9174600-9184400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr18:9174600-9184600	Weak transcription	Adipose Nuclei	Adipose
47	chr18:9174600-9185000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr18:9174600-9188000	Weak transcription	Ovary	ovary
49	chr18:9174600-9188000	Weak transcription	HSMMtube	muscle
50	chr18:9174600-9188200	Weak transcription	Fetal Thymus	thymus

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