Variant report

Variant	rs10043526
Chromosome Location	chr5:118880628-118880629
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118872062..118875418-chr5:118875456..118880778,4	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10042168	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10045066	0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10051019	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10066302	0.83[EUR][1000 genomes]
rs10069657	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10069875	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10073818	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs10078097	0.91[CHB][hapmap];0.96[JPT][hapmap];0.83[EUR][1000 genomes]
rs10478425	0.83[EUR][1000 genomes]
rs10478426	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11241506	0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs12653056	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs12653702	0.91[CHB][hapmap]
rs12656474	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs12658566	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs13361193	0.91[CHB][hapmap];0.96[JPT][hapmap];0.83[EUR][1000 genomes]
rs13436061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13436186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13436451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2075698	0.91[CHB][hapmap];0.96[JPT][hapmap];1.00[EUR][1000 genomes]
rs2287712	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2303003	0.91[CHB][hapmap];0.96[JPT][hapmap];0.83[EUR][1000 genomes]
rs257972	0.80[JPT][hapmap]
rs33926345	0.94[ASN][1000 genomes]
rs34480380	1.00[EUR][1000 genomes]
rs34554885	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3756512	0.82[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs3797360	1.00[EUR][1000 genomes]
rs3797362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3797363	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3797364	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3797365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3797367	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3797369	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3822525	0.87[CHB][hapmap];0.96[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3850200	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs463098	0.83[JPT][hapmap]
rs58263192	0.83[EUR][1000 genomes]
rs60146316	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61363907	0.84[ASN][1000 genomes]
rs6881294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6894991	0.91[CHB][hapmap];0.96[JPT][hapmap];1.00[EUR][1000 genomes]
rs6895345	0.91[CHB][hapmap];0.96[JPT][hapmap];1.00[EUR][1000 genomes]
rs73249951	0.83[EUR][1000 genomes]
rs9327102	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9327104	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882776	chr5:118859546-118915408	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv882777	chr5:118870452-118981480	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118866000-118883200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:118874800-118890200	Weak transcription	Fetal Heart	heart
3	chr5:118876400-118881000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:118877400-118881600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:118878600-118880800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:118878600-118882000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:118878800-118881000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:118878800-118881000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:118878800-118881000	Weak transcription	Brain Substantia Nigra	brain
10	chr5:118878800-118881400	Weak transcription	Gastric	stomach
11	chr5:118878800-118881600	Weak transcription	Dnd41	blood
12	chr5:118878800-118881800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:118878800-118885600	Weak transcription	Fetal Stomach	stomach
14	chr5:118878800-118886800	Weak transcription	Aorta	Aorta
15	chr5:118878800-118888600	Weak transcription	Ovary	ovary
16	chr5:118879000-118880800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:118879000-118880800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:118879000-118880800	Weak transcription	Fetal Intestine Small	intestine
19	chr5:118879000-118884200	Weak transcription	Lung	lung
20	chr5:118879000-118884600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:118879000-118885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:118879000-118885200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:118879000-118891200	Weak transcription	Pancreas	Pancrea
24	chr5:118879200-118880800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:118879200-118880800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:118879200-118880800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:118879200-118880800	Weak transcription	Left Ventricle	heart
28	chr5:118879200-118881600	Weak transcription	Primary B cells from cord blood	blood
29	chr5:118879200-118882000	Weak transcription	Liver	Liver
30	chr5:118879200-118887600	Weak transcription	Adipose Nuclei	Adipose
31	chr5:118879200-118892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:118879400-118881000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:118879400-118883400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:118880000-118881000	Enhancers	Brain Hippocampus Middle	brain
35	chr5:118880000-118881400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr5:118880200-118881400	Enhancers	Brain Angular Gyrus	brain
37	chr5:118880200-118881400	Enhancers	Brain Anterior Caudate	brain
38	chr5:118880400-118881000	Weak transcription	Brain Cingulate Gyrus	brain

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