Variant report

Variant	rs11633829
Chromosome Location	chr15:83326938-83326939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83311482..83314245-chr15:83326104..83328950,2	K562	blood:
2	chr15:83325295..83328709-chr15:83330365..83332547,4	K562	blood:
3	chr15:83321977..83323621-chr15:83325301..83327966,2	K562	blood:
4	chr15:83326624..83328865-chr15:83351824..83354482,2	K562	blood:
5	chr15:83325295..83330219-chr15:83330483..83333738,7	K562	blood:

Variant related genes	Relation type
ENSG00000103723	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10400906	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10468217	0.90[ASN][1000 genomes]
rs10906984	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1145172	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs1145173	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs11631963	0.91[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs11635624	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11637433	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs11855735	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs12148332	0.92[ASN][1000 genomes]
rs12438312	0.93[ASN][1000 genomes]
rs12442686	0.91[ASN][1000 genomes]
rs1259180	0.90[ASN][1000 genomes]
rs1259182	0.94[ASN][1000 genomes]
rs1259183	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12592022	1.00[YRI][hapmap]
rs1267657	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1267658	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1267659	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1269134	0.96[ASN][1000 genomes]
rs12911134	0.90[ASN][1000 genomes]
rs12916980	0.91[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1313492	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1313493	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1367841	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1594511	0.91[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs17158390	0.97[ASN][1000 genomes]
rs1864699	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2099259	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2278355	0.86[CHB][hapmap];0.93[ASN][1000 genomes]
rs2567635	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2567636	0.90[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2678445	0.86[ASN][1000 genomes]
rs2678448	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28374463	0.93[ASN][1000 genomes]
rs28415133	0.91[ASN][1000 genomes]
rs28667458	0.90[ASN][1000 genomes]
rs2870965	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2870966	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs28808991	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34186444	0.97[ASN][1000 genomes]
rs35934048	0.88[ASN][1000 genomes]
rs36109438	0.91[ASN][1000 genomes]
rs3970696	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4778686	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4779032	0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4779039	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4779041	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4779044	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4779050	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4779053	0.90[ASN][1000 genomes]
rs4779054	0.81[ASN][1000 genomes]
rs55924160	0.97[ASN][1000 genomes]
rs57181760	0.96[ASN][1000 genomes]
rs6603033	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs698500	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs7165125	0.95[ASN][1000 genomes]
rs7166248	0.90[ASN][1000 genomes]
rs7167880	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs7171180	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7178350	0.94[ASN][1000 genomes]
rs7181761	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7182403	0.97[ASN][1000 genomes]
rs7183881	0.97[ASN][1000 genomes]
rs7494860	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs7496954	0.97[ASN][1000 genomes]
rs783520	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs783521	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs783522	0.97[ASN][1000 genomes]
rs783523	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs783525	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs783526	0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs783527	0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs783529	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs783530	0.92[ASN][1000 genomes]
rs783531	0.91[ASN][1000 genomes]
rs783532	0.92[ASN][1000 genomes]
rs783533	0.94[ASN][1000 genomes]
rs783534	0.94[ASN][1000 genomes]
rs783535	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs783536	0.93[ASN][1000 genomes]
rs783537	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs783539	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs783540	0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs783543	0.91[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs783545	0.90[ASN][1000 genomes]
rs803687	0.84[ASN][1000 genomes]
rs803688	0.85[ASN][1000 genomes]
rs803747	0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs8040293	0.94[ASN][1000 genomes]
rs8043401	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9652567	0.84[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	esv1808975	chr15:83307574-83360168	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11633829	RP13-608F4.1	cis	Esophagus Mucosa	GTEx
rs11633829	GOLGA6L10	cis	Esophagus Mucosa	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83317200-83331800	Weak transcription	Gastric	stomach
2	chr15:83317200-83336200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:83317600-83327800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:83319200-83327600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:83319200-83328200	Weak transcription	Brain Angular Gyrus	brain
6	chr15:83319200-83330400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr15:83319600-83327000	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:83319600-83327600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:83320200-83327800	Weak transcription	Brain Substantia Nigra	brain
10	chr15:83323000-83327600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:83324800-83331400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:83325200-83327600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:83325800-83333800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:83326200-83328800	Strong transcription	Fetal Brain Female	brain
15	chr15:83326400-83328200	Strong transcription	Brain Anterior Caudate	brain
16	chr15:83326600-83330400	Weak transcription	Fetal Brain Male	brain
17	chr15:83326600-83336000	Strong transcription	Brain Germinal Matrix	brain

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