Variant report

Variant	rs10468858
Chromosome Location	chr18:43577865-43577866
allele	C/G
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	ELF1	chr18:43577533-43577966	GM12878	blood:	n/a	chr18:43577697-43577706
2	NFIC	chr18:43577699-43578320	GM12878	blood:	n/a	n/a
3	RUNX3	chr18:43577836-43578226	GM12878	blood:	n/a	n/a
4	EBF1	chr18:43577717-43578123	GM12878	blood:	n/a	n/a
5	MTA3	chr18:43577701-43578271	GM12878	blood:	n/a	n/a
6	RUNX3	chr18:43577788-43578573	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43577618..43580480-chr18:43580513..43583485,2	K562	blood:

Variant related genes	Relation type
PSTPIP2	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10468859	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10468860	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]
rs10468978	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10468979	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10468980	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1048827	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12326264	0.92[EUR][1000 genomes]
rs12326492	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12604765	0.94[EUR][1000 genomes]
rs12604777	0.94[EUR][1000 genomes]
rs12604854	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12604855	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12607016	0.94[EUR][1000 genomes]
rs1438388	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16978508	0.86[ASN][1000 genomes]
rs16978509	0.85[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1837213	0.84[ASN][1000 genomes]
rs2276196	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2276197	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2276199	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3745001	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs3844540	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3897646	0.87[ASN][1000 genomes]
rs4081459	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4081460	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4081461	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4121893	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4121894	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs486424	0.82[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs488431	0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs4890308	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4890309	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4890607	0.90[EUR][1000 genomes]
rs4890608	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4890609	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4890610	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4890611	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4890612	0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4890613	0.85[JPT][hapmap]
rs495371	0.91[EUR][1000 genomes]
rs497245	0.91[EUR][1000 genomes]
rs55966192	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56663039	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs568448	0.86[ASN][1000 genomes]
rs57140490	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57259994	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57525917	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57589400	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57872016	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58610818	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58727515	0.90[EUR][1000 genomes]
rs58786055	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58941766	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58976752	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs591123	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59280848	0.92[EUR][1000 genomes]
rs593664	0.85[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs594492	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs596415	0.85[ASN][1000 genomes]
rs59766210	0.92[EUR][1000 genomes]
rs60116181	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61066139	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6507653	0.92[EUR][1000 genomes]
rs6507654	0.92[EUR][1000 genomes]
rs6507655	0.92[EUR][1000 genomes]
rs6507656	0.92[EUR][1000 genomes]
rs6507658	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6507659	0.85[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67746112	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs687526	0.85[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs688547	0.85[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7227161	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7229227	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7229264	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7237564	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7237598	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7237602	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7237813	0.80[ASN][1000 genomes]
rs7240441	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7240541	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7241551	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7242970	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7243109	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7243407	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7244712	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7244785	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7244810	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72642430	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72642431	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72642432	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72642433	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72642434	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72642435	0.84[ASN][1000 genomes]
rs73953950	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7408094	0.92[EUR][1000 genomes]
rs8084943	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8084952	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs920294	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs920295	0.81[ASN][1000 genomes]
rs920296	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9630785	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9675392	0.85[JPT][hapmap];0.83[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:78 , 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	chr18:43567800-43578400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:43567800-43588800	Weak transcription	NHEK	skin
13	chr18:43568000-43583200	Weak transcription	Esophagus	oesophagus
14	chr18:43568400-43578200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr18:43568600-43596800	Weak transcription	Adipose Nuclei	Adipose
16	chr18:43568800-43588600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr18:43568800-43607800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:43569400-43588800	Weak transcription	Fetal Stomach	stomach
19	chr18:43570000-43579400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:43570000-43583000	Weak transcription	Aorta	Aorta
21	chr18:43570200-43588800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr18:43571400-43622000	Weak transcription	Gastric	stomach
23	chr18:43572200-43582600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:43573800-43582000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:43574200-43582000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:43574200-43582600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:43574200-43590000	Weak transcription	HMEC	breast
28	chr18:43574200-43592000	Weak transcription	NH-A	brain
29	chr18:43574200-43593200	Weak transcription	NHDF-Ad	bronchial
30	chr18:43574200-43597400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr18:43574200-43608000	Weak transcription	NHLF	lung
32	chr18:43574600-43608000	Weak transcription	Osteobl	bone
33	chr18:43575400-43580600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:43575800-43578600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:43576000-43579800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr18:43576000-43585800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:43576600-43578800	Weak transcription	Spleen	Spleen
38	chr18:43576600-43581600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr18:43576600-43588800	Weak transcription	Ovary	ovary
40	chr18:43576800-43578000	Enhancers	GM12878-XiMat	blood
41	chr18:43576800-43578600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr18:43576800-43579200	Enhancers	Dnd41	blood
43	chr18:43577000-43578000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr18:43577000-43578000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr18:43577000-43581200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr18:43577000-43589600	Weak transcription	Liver	Liver
47	chr18:43577600-43578000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr18:43577600-43578600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr18:43577800-43578000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr18:43577800-43578000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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