Variant report

Variant	rs10468860
Chromosome Location	chr18:43578623-43578624
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr18:43578152-43578633	K562	blood:	n/a	n/a
2	RCOR1	chr18:43577898-43578644	K562	blood:	n/a	n/a
3	IRF1	chr18:43578088-43578691	K562	blood:	n/a	chr18:43578113-43578127 chr18:43578117-43578127
4	EP300	chr18:43578076-43578657	K562	blood:	n/a	n/a
5	MYC	chr18:43578204-43578623	K562	blood:	n/a	chr18:43578432-43578443
6	MAZ	chr18:43578333-43578636	K562	blood:	n/a	chr18:43578432-43578443

No.	Distal block	Cell Line	Cell type
1	chr18:43577618..43580480-chr18:43580513..43583485,2	K562	blood:
2	chr18:43578212..43579999-chr18:43649262..43652409,3	K562	blood:
3	chr18:43578214..43579999-chr18:43649262..43651951,2	K562	blood:

Variant related genes	Relation type
PSTPIP2	TF binding region
ENSG00000152229	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10468858	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10468859	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10468978	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10468979	0.80[EUR][1000 genomes]
rs10468980	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1048827	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12326264	0.91[EUR][1000 genomes]
rs12326492	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12604765	0.93[EUR][1000 genomes]
rs12604777	0.93[EUR][1000 genomes]
rs12604854	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12604855	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12607016	0.93[EUR][1000 genomes]
rs1438388	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16978508	0.96[ASN][1000 genomes]
rs16978509	0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs16978517	0.86[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs1837213	0.94[ASN][1000 genomes]
rs2276196	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2276197	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2276199	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3745001	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3844540	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4081459	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4081460	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4081461	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4121893	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4121894	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs486424	0.94[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs488431	0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs4890308	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4890309	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4890607	0.89[EUR][1000 genomes]
rs4890608	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4890609	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4890610	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4890611	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4890612	0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs4890613	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4890614	0.81[JPT][hapmap]
rs495371	0.90[EUR][1000 genomes]
rs497245	0.90[EUR][1000 genomes]
rs55966192	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56663039	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs567504	0.90[ASN][1000 genomes]
rs568448	0.94[ASN][1000 genomes]
rs57140490	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57141604	0.84[ASN][1000 genomes]
rs57259994	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57525917	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57589400	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57872016	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58610818	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58727515	0.89[EUR][1000 genomes]
rs58786055	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58941766	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58976752	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs591123	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59280848	0.91[EUR][1000 genomes]
rs593664	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs594492	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs596415	0.95[ASN][1000 genomes]
rs59766210	0.91[EUR][1000 genomes]
rs60116181	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs610186	0.81[JPT][hapmap]
rs61066139	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6507653	0.91[EUR][1000 genomes]
rs6507654	0.91[EUR][1000 genomes]
rs6507655	0.91[EUR][1000 genomes]
rs6507656	0.91[EUR][1000 genomes]
rs6507658	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6507659	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6507661	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs654466	0.81[JPT][hapmap]
rs67746112	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs687526	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs688547	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs7227161	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7229227	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7229264	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7237564	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7237598	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7237602	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7237813	0.89[ASN][1000 genomes]
rs7240441	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7240541	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7241551	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7242970	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7243109	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7243407	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7244712	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7244785	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7244810	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72642430	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72642431	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72642432	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72642433	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72642434	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72642435	0.94[ASN][1000 genomes]
rs73953950	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7408094	0.91[EUR][1000 genomes]
rs8084943	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8084952	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs920294	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs920296	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9630785	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9675392	0.86[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv2277	chr18:43543715-43588579	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3389842	chr18:43576604-43578902	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43558800-43608000	Weak transcription	Pancreas	Pancrea
2	chr18:43560400-43582600	Weak transcription	Fetal Intestine Small	intestine
3	chr18:43560400-43597600	Weak transcription	Left Ventricle	heart
4	chr18:43560600-43591600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr18:43562400-43583200	Weak transcription	Lung	lung
6	chr18:43562600-43585600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr18:43563400-43592000	Weak transcription	Psoas Muscle	Psoas
8	chr18:43565400-43588800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr18:43565400-43590800	Weak transcription	Colon Smooth Muscle	Colon
10	chr18:43565600-43588800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr18:43567800-43588800	Weak transcription	NHEK	skin
12	chr18:43568000-43583200	Weak transcription	Esophagus	oesophagus
13	chr18:43568600-43596800	Weak transcription	Adipose Nuclei	Adipose
14	chr18:43568800-43588600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr18:43568800-43607800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr18:43569400-43588800	Weak transcription	Fetal Stomach	stomach
17	chr18:43570000-43579400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:43570000-43583000	Weak transcription	Aorta	Aorta
19	chr18:43570200-43588800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr18:43571400-43622000	Weak transcription	Gastric	stomach
21	chr18:43572200-43582600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:43573800-43582000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:43574200-43582000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:43574200-43582600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:43574200-43590000	Weak transcription	HMEC	breast
26	chr18:43574200-43592000	Weak transcription	NH-A	brain
27	chr18:43574200-43593200	Weak transcription	NHDF-Ad	bronchial
28	chr18:43574200-43597400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:43574200-43608000	Weak transcription	NHLF	lung
30	chr18:43574600-43608000	Weak transcription	Osteobl	bone
31	chr18:43575400-43580600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:43576000-43579800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr18:43576000-43585800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:43576600-43578800	Weak transcription	Spleen	Spleen
35	chr18:43576600-43581600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr18:43576600-43588800	Weak transcription	Ovary	ovary
37	chr18:43576800-43579200	Enhancers	Dnd41	blood
38	chr18:43577000-43581200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr18:43577000-43589600	Weak transcription	Liver	Liver
40	chr18:43577800-43578800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr18:43577800-43578800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr18:43577800-43578800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr18:43577800-43578800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr18:43577800-43578800	Enhancers	Thymus	Thymus
45	chr18:43577800-43579000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr18:43577800-43579000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr18:43577800-43579200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr18:43577800-43579400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr18:43577800-43579400	Enhancers	Fetal Thymus	thymus
50	chr18:43577800-43579800	Enhancers	K562	blood

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