Variant report

Variant	rs948604
Chromosome Location	chr18:45434712-45434713
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45433702..45435332-chr18:45435703..45437890,2	MCF-7	breast:
2	chr18:45428185..45429886-chr18:45431869..45434765,2	K562	blood:
3	chr18:45423080..45425133-chr18:45433717..45436076,2	K562	blood:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10432199	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10502890	0.96[CEU][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs10853560	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11082638	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082639	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082641	0.92[CEU][hapmap]
rs11874858	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12457664	0.96[CEU][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs12458238	0.85[CEU][hapmap]
rs12604337	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12605333	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12956483	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12968107	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12968493	0.85[CEU][hapmap]
rs12969725	0.85[CEU][hapmap]
rs13381619	0.91[CHB][hapmap];0.98[ASN][1000 genomes]
rs1539871	0.89[GIH][hapmap];0.85[MEX][hapmap]
rs1539872	0.89[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1573362	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs1573363	0.89[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1613672	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1631576	0.85[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17741998	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1787176	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1787185	0.82[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap]
rs1787186	0.80[CEU][hapmap]
rs1787193	0.85[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1787194	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1787196	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1787197	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1792653	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1792655	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1792668	0.85[CEU][hapmap]
rs1792669	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792670	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792671	0.85[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap]
rs1792672	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1792674	0.81[CEU][hapmap]
rs1792675	0.85[CEU][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs1792679	0.82[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap]
rs1792681	0.87[CHB][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap]
rs1792682	0.82[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap]
rs1792683	0.93[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1792686	0.85[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap]
rs1792687	0.81[CEU][hapmap]
rs1981	0.82[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap]
rs2000708	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2000709	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2012555	0.89[CEU][hapmap];0.80[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2096932	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2096933	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28548478	0.84[EUR][1000 genomes]
rs3813068	0.93[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4939672	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4940102	0.85[CEU][hapmap]
rs4940109	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4940110	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4940120	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4940127	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61513611	0.80[EUR][1000 genomes]
rs62086544	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6507790	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6507791	0.89[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap]
rs7228393	0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7231538	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7232764	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7232893	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7233129	0.89[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7236177	0.89[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7237544	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7243502	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs729112	0.89[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs747952	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747953	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765213	0.96[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8084915	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8095519	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8097580	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8097912	0.89[CEU][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8097925	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8099127	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099681	0.85[EUR][1000 genomes]
rs948600	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs948601	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs948602	0.85[CEU][hapmap]
rs948603	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9946556	0.85[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9947494	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9950207	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9955626	0.89[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9961652	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9966637	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9966964	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45420800-45439600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr18:45421200-45436800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:45421800-45437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:45423200-45438200	Weak transcription	Gastric	stomach
5	chr18:45423200-45451400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr18:45426200-45438200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr18:45428600-45438000	Weak transcription	K562	blood
8	chr18:45429600-45437800	Weak transcription	Right Atrium	heart
9	chr18:45429800-45435000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr18:45429800-45435800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr18:45429800-45438200	Weak transcription	Psoas Muscle	Psoas
12	chr18:45430600-45438200	Weak transcription	Esophagus	oesophagus
13	chr18:45430800-45435000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:45430800-45435200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr18:45430800-45438400	Weak transcription	Aorta	Aorta
16	chr18:45431000-45437800	Weak transcription	Left Ventricle	heart
17	chr18:45431000-45438000	Weak transcription	Fetal Heart	heart
18	chr18:45431000-45438200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:45431000-45438200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr18:45431000-45438200	Weak transcription	Right Ventricle	heart
21	chr18:45431000-45438400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:45431000-45442800	Weak transcription	Lung	lung
23	chr18:45431200-45436000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:45431600-45435200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:45431600-45438000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr18:45431800-45435200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:45431800-45435200	ZNF genes & repeats	Dnd41	blood
28	chr18:45431800-45438200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr18:45432200-45435600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr18:45432200-45435800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr18:45432400-45436000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr18:45432600-45435600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr18:45432600-45437600	Weak transcription	Fetal Intestine Large	intestine
34	chr18:45432800-45434800	ZNF genes & repeats	GM12878-XiMat	blood
35	chr18:45432800-45435400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:45432800-45436200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:45433000-45434800	Genic enhancers	Primary T cells from cord blood	blood
38	chr18:45433200-45435000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:45433200-45435800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr18:45433200-45436000	Weak transcription	Brain Germinal Matrix	brain
41	chr18:45433200-45437400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr18:45433200-45437600	Weak transcription	Fetal Intestine Small	intestine
43	chr18:45433200-45437800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:45433200-45437800	Weak transcription	Adipose Nuclei	Adipose
45	chr18:45433200-45438200	Weak transcription	Ovary	ovary
46	chr18:45433200-45438200	Weak transcription	HMEC	breast
47	chr18:45433200-45438200	Weak transcription	NHEK	skin
48	chr18:45433200-45438600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr18:45433200-45438600	Weak transcription	Fetal Kidney	kidney
50	chr18:45433200-45439400	Weak transcription	Pancreas	Pancrea

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