Variant report

Variant	rs10518543
Chromosome Location	chr4:130034818-130034819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:130030784..130034303-chr4:130034493..130036505,5	K562	blood:
2	chr4:130028612..130032885-chr4:130034533..130038076,4	K562	blood:
3	chr4:130013027..130015961-chr4:130034387..130037215,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151470	Chromatin interaction
ENSG00000151466	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12648004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12651152	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13101732	0.87[AMR][1000 genomes]
rs13106626	0.82[ASN][1000 genomes]
rs13111663	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13124870	0.82[ASN][1000 genomes]
rs13126896	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs13127992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13136209	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13138537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13139306	1.00[JPT][hapmap]
rs17014149	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17014190	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17184802	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2068135	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2068136	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28643269	0.96[ASN][1000 genomes]
rs33999735	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34044129	0.88[EUR][1000 genomes]
rs34302928	0.86[ASN][1000 genomes]
rs34483420	0.96[EUR][1000 genomes]
rs35002630	0.92[EUR][1000 genomes]
rs35053690	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35128288	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35149191	0.82[ASN][1000 genomes]
rs35199409	0.86[ASN][1000 genomes]
rs35259423	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35349408	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35388412	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35879843	0.87[AMR][1000 genomes]
rs36000518	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36101862	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36124477	1.00[EUR][1000 genomes]
rs36128858	0.82[ASN][1000 genomes]
rs71612197	0.92[EUR][1000 genomes]
rs71612199	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71613905	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71613907	0.82[ASN][1000 genomes]
rs71613908	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71613914	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130017600-130040400	Weak transcription	Lung	lung
2	chr4:130018000-130038000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr4:130025800-130035000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:130028800-130036600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:130029200-130040000	Weak transcription	Esophagus	oesophagus
6	chr4:130029400-130035400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:130029400-130041200	Weak transcription	Spleen	Spleen
8	chr4:130029600-130038600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:130030800-130035600	Weak transcription	Gastric	stomach
10	chr4:130031400-130036800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:130031800-130035800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:130031800-130035800	Weak transcription	Left Ventricle	heart
13	chr4:130031800-130036800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:130031800-130037400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:130031800-130037400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:130031800-130039800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:130031800-130040000	Weak transcription	Dnd41	blood
18	chr4:130032000-130035400	Weak transcription	Ovary	ovary
19	chr4:130032000-130037400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:130032200-130035000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:130032400-130035200	Weak transcription	Pancreas	Pancrea
22	chr4:130032400-130036400	Weak transcription	Fetal Heart	heart
23	chr4:130032400-130037800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:130032400-130038000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:130032400-130038200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:130032400-130040000	Weak transcription	Primary T cells from cord blood	blood
27	chr4:130032400-130052200	Weak transcription	Aorta	Aorta
28	chr4:130033400-130036800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr4:130033600-130036800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:130034000-130036800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:130034600-130035000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:130034600-130035200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:130034600-130035200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:130034600-130035400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr4:130034800-130038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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