Variant report

Variant	rs7239351
Chromosome Location	chr18:43851338-43851339
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43848661..43851599-chr18:43856427..43859027,2	K562	blood:
2	chr18:43851027..43852894-chr18:43913244..43915133,2	MCF-7	breast:
3	chr18:43838791..43840958-chr18:43849580..43851726,2	K562	blood:
4	chr18:43739084..43741230-chr18:43849906..43852814,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141622	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs11082512	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs11082514	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11082518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12457740	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12604963	0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs12605275	0.83[ASN][1000 genomes]
rs12605945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12607898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12608232	0.91[EUR][1000 genomes]
rs12709736	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12953780	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12954967	0.83[ASN][1000 genomes]
rs12962307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12962951	0.95[EUR][1000 genomes]
rs12963787	0.95[EUR][1000 genomes]
rs12963943	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12967694	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs12969147	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13381496	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13381515	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13381523	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13381525	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13381529	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16978526	0.83[ASN][1000 genomes]
rs16978530	0.83[ASN][1000 genomes]
rs1791407	0.86[JPT][hapmap]
rs1791413	0.86[JPT][hapmap]
rs1791414	0.86[JPT][hapmap]
rs1808946	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36191490	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3744858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4243279	0.83[ASN][1000 genomes]
rs4274509	0.83[JPT][hapmap]
rs4335852	0.91[EUR][1000 genomes]
rs4453594	0.95[EUR][1000 genomes]
rs4453596	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4542747	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4574015	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs4627465	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4890317	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs4890319	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4890320	0.97[EUR][1000 genomes]
rs4890321	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4890626	0.86[EUR][1000 genomes]
rs4890628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4890629	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4890631	0.95[EUR][1000 genomes]
rs4890632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4890633	1.00[CEU][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4890634	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55747741	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62096523	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62096524	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62096525	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62096526	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62098160	0.90[EUR][1000 genomes]
rs6507675	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs6507676	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6507677	0.89[EUR][1000 genomes]
rs6507679	0.86[JPT][hapmap]
rs6507680	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6507681	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6507682	0.91[EUR][1000 genomes]
rs6507690	0.97[EUR][1000 genomes]
rs6507691	0.95[EUR][1000 genomes]
rs6507692	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6507693	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs718513	0.87[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718514	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7227847	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7228024	0.82[ASN][1000 genomes]
rs7228365	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs7230154	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7230905	0.81[ASN][1000 genomes]
rs7230995	0.95[EUR][1000 genomes]
rs7231430	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7231820	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7234695	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7236687	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7240354	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7241527	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7241829	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7242375	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7245091	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73425119	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7506126	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs8084309	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8084827	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8084829	0.93[EUR][1000 genomes]
rs8085138	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8086610	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8086956	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8090542	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8093407	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8094070	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8094706	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8095142	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8095729	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8095799	0.93[EUR][1000 genomes]
rs8098751	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8099202	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9675387	0.88[CEU][hapmap];0.95[EUR][1000 genomes]
rs9807157	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs9944715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9944767	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs9944836	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9945783	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9947206	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9948282	0.93[EUR][1000 genomes]
rs9949494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9951624	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9952469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9952654	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9956574	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs9959526	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs9959813	0.95[CEU][hapmap];0.98[EUR][1000 genomes]
rs9959905	0.94[CEU][hapmap];0.97[EUR][1000 genomes]
rs9960378	0.97[EUR][1000 genomes]
rs9963153	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9963843	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9967229	0.86[JPT][hapmap];0.83[ASN][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	nsv1064031	chr18:43782309-43878806	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43830000-43854200	Weak transcription	Esophagus	oesophagus
2	chr18:43831000-43851400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr18:43831400-43863200	Weak transcription	Fetal Intestine Small	intestine
4	chr18:43833800-43856800	Weak transcription	Aorta	Aorta
5	chr18:43840000-43853600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:43841000-43861400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr18:43841000-43864200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr18:43841400-43858000	Weak transcription	HSMMtube	muscle
9	chr18:43841400-43858400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr18:43842200-43852000	Weak transcription	Colonic Mucosa	Colon
11	chr18:43842200-43869800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr18:43843200-43852200	Weak transcription	Gastric	stomach
13	chr18:43843200-43855200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:43843600-43858200	Weak transcription	K562	blood
15	chr18:43844000-43857600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr18:43844200-43857000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:43844200-43861400	Weak transcription	Hela-S3	cervix
18	chr18:43844400-43856400	Weak transcription	NHDF-Ad	bronchial
19	chr18:43844400-43857800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:43844600-43851800	Weak transcription	Right Atrium	heart
21	chr18:43844600-43854000	Weak transcription	GM12878-XiMat	blood
22	chr18:43844600-43857800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr18:43844600-43857800	Weak transcription	Adipose Nuclei	Adipose
24	chr18:43844600-43858400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:43844800-43851800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:43844800-43853600	Weak transcription	Placenta	Placenta
27	chr18:43844800-43857000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:43844800-43857600	Weak transcription	NH-A	brain
29	chr18:43845000-43853600	Weak transcription	HMEC	breast
30	chr18:43845000-43856800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr18:43845000-43861400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr18:43845200-43853200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:43845400-43856200	Weak transcription	Fetal Thymus	thymus
34	chr18:43845600-43853000	Weak transcription	Small Intestine	intestine
35	chr18:43845600-43853600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr18:43845600-43856400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:43845600-43857000	Weak transcription	NHLF	lung
38	chr18:43845600-43857600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:43845600-43858800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr18:43845600-43863000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr18:43845600-43863600	Weak transcription	Brain Anterior Caudate	brain
42	chr18:43845800-43851800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:43845800-43855600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr18:43845800-43856600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:43845800-43857600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr18:43846000-43852800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr18:43846000-43853800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr18:43846000-43853800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr18:43846000-43854000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr18:43846000-43854000	Weak transcription	H1 Cell Line	embryonic stem cell

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