Variant report

Variant	rs7236710
Chromosome Location	chr18:13050389-13050390
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13043020..13046495-chr18:13047158..13050914,5	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10163827	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11080617	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11080618	0.87[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11659979	0.80[CEU][hapmap]
rs11661559	0.90[EUR][1000 genomes]
rs11661908	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11662634	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11662766	0.83[JPT][hapmap]
rs11664213	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11664469	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12327306	0.91[EUR][1000 genomes]
rs12604538	0.82[JPT][hapmap]
rs12605189	0.81[JPT][hapmap]
rs12605267	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12607398	0.89[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12607919	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs12953783	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12957380	0.95[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12960349	0.87[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12961596	0.81[ASN][1000 genomes]
rs12963426	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12970503	0.81[ASN][1000 genomes]
rs12971069	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13381134	0.91[EUR][1000 genomes]
rs13381779	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1523064	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17603207	0.96[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17659689	0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17659749	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17659896	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2015763	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2282540	0.95[EUR][1000 genomes]
rs2282541	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28551661	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28654613	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34117444	0.92[EUR][1000 genomes]
rs34166083	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34302481	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35368962	0.84[ASN][1000 genomes]
rs35563947	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3976787	0.81[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs496270	0.90[EUR][1000 genomes]
rs56263236	0.94[ASN][1000 genomes]
rs68004799	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71353241	0.85[EUR][1000 genomes]
rs7228684	0.95[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7229869	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7230391	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7230435	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7234938	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7237711	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7239486	0.84[EUR][1000 genomes]
rs8083393	0.82[JPT][hapmap]
rs8083401	0.82[ASN][1000 genomes]
rs8086882	0.95[ASN][1000 genomes]
rs8088752	0.81[JPT][hapmap]
rs8089724	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8090667	0.81[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs8093236	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs8093576	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs8096860	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8566	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9950241	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7236710	CEP192	cis	Esophagus Muscularis	GTEx
rs7236710	CEP192	cis	Nerve Tibial	GTEx
rs7236710	CEP192	Cis_1M	lymphoblastoid	RTeQTL
rs7236710	CEP192	cis	Thyroid	GTEx
rs7236710	CEP192	cis	Artery Tibial	GTEx
rs7236710	CEP192	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13013800-13052000	Weak transcription	Right Ventricle	heart
2	chr18:13013800-13053200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:13016800-13053200	Weak transcription	Esophagus	oesophagus
4	chr18:13017200-13056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
6	chr18:13028400-13052000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr18:13032000-13056000	Weak transcription	HSMMtube	muscle
8	chr18:13033000-13052200	Weak transcription	Fetal Brain Male	brain
9	chr18:13033400-13053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:13036400-13051400	Strong transcription	Primary B cells from cord blood	blood
11	chr18:13036800-13051400	Weak transcription	Gastric	stomach
12	chr18:13036800-13051800	Weak transcription	NHLF	lung
13	chr18:13036800-13053200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:13039800-13050800	Weak transcription	Fetal Intestine Small	intestine
15	chr18:13040200-13051800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr18:13041000-13050600	Strong transcription	HUVEC	blood vessel
17	chr18:13041600-13063600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr18:13041800-13058400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr18:13041800-13064400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr18:13043200-13051400	Strong transcription	Primary hematopoietic stem cells	blood
21	chr18:13043200-13053200	Weak transcription	Brain Germinal Matrix	brain
22	chr18:13043200-13054000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:13043200-13056000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr18:13043200-13058400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:13043200-13058600	Weak transcription	Fetal Heart	heart
26	chr18:13043200-13077800	Strong transcription	Dnd41	blood
27	chr18:13043400-13050800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr18:13043400-13051800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr18:13045200-13052000	Strong transcription	Primary T cells from cord blood	blood
30	chr18:13045400-13063800	Strong transcription	Fetal Thymus	thymus
31	chr18:13045600-13051800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr18:13045600-13051800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr18:13045600-13053400	Strong transcription	K562	blood
34	chr18:13045600-13062400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr18:13045600-13063200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr18:13045800-13056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr18:13045800-13057000	Strong transcription	A549	lung
38	chr18:13045800-13062400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr18:13045800-13063800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr18:13046000-13051400	Strong transcription	Lung	lung
41	chr18:13046000-13051800	Strong transcription	GM12878-XiMat	blood
42	chr18:13046000-13057600	Strong transcription	Adipose Nuclei	Adipose
43	chr18:13046000-13058200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr18:13046000-13060600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr18:13046000-13062200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr18:13046000-13062200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:13046000-13062200	Strong transcription	Thymus	Thymus
48	chr18:13046000-13062400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr18:13046000-13062400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr18:13046000-13062400	Strong transcription	Fetal Intestine Large	intestine

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