Variant report

Variant	rs35563947
Chromosome Location	chr18:13003267-13003268
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12990233..12992753-chr18:13003201..13005792,2	MCF-7	breast:
2	chr18:12962926..12965519-chr18:13001334..13004209,2	K562	blood:
3	chr18:12988481..12994468-chr18:12998354..13003992,8	MCF-7	breast:
4	chr18:12996926..12999710-chr18:13000576..13003531,2	K562	blood:
5	chr18:13003140..13003705-chr18:13793544..13794119,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101639	Chromatin interaction
ENSG00000266969	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10163827	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11080617	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11080618	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11661559	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11662634	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11664213	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11664469	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12327306	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12605267	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607398	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12607919	0.86[ASN][1000 genomes]
rs12953783	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12957380	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12960349	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12961596	0.97[ASN][1000 genomes]
rs12963426	0.99[ASN][1000 genomes]
rs12967249	0.88[AMR][1000 genomes]
rs12970503	0.97[ASN][1000 genomes]
rs13381134	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13381779	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1523064	0.85[ASN][1000 genomes]
rs17603207	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17659689	0.95[ASN][1000 genomes]
rs17659749	0.95[ASN][1000 genomes]
rs17659896	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015763	0.85[ASN][1000 genomes]
rs2282540	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2282541	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28551661	0.99[ASN][1000 genomes]
rs28654613	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34117444	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34166083	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34302481	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35368962	0.96[ASN][1000 genomes]
rs3809914	0.88[ASN][1000 genomes]
rs3976787	0.97[ASN][1000 genomes]
rs496270	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56263236	0.82[ASN][1000 genomes]
rs68004799	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71353241	0.84[AMR][1000 genomes]
rs7228684	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7229869	0.85[ASN][1000 genomes]
rs7230391	0.99[ASN][1000 genomes]
rs7230435	0.87[ASN][1000 genomes]
rs7234938	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7236710	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7237711	0.84[ASN][1000 genomes]
rs7239486	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8083401	0.86[ASN][1000 genomes]
rs8086882	0.83[ASN][1000 genomes]
rs8089724	0.97[ASN][1000 genomes]
rs8090667	0.95[ASN][1000 genomes]
rs8093236	0.86[ASN][1000 genomes]
rs8093576	0.95[ASN][1000 genomes]
rs8096860	0.85[ASN][1000 genomes]
rs8566	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9950241	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv1062413	chr18:12988947-13039941	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv543657	chr18:12988947-13039941	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs35563947	CEP192	Cis_1M	lymphoblastoid	RTeQTL
rs35563947	CEP192	cis	Artery Tibial	GTEx
rs35563947	CEP192	cis	Esophagus Muscularis	GTEx
rs35563947	CEP192	cis	lung	GTEx
rs35563947	CEP192	cis	Thyroid	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12992000-13004400	Weak transcription	Esophagus	oesophagus
2	chr18:12992200-13004800	Weak transcription	Aorta	Aorta
3	chr18:12992400-13004400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:12992600-13031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:12992800-13004000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr18:12992800-13008800	Weak transcription	Colonic Mucosa	Colon
7	chr18:12992800-13009200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr18:12992800-13013200	Weak transcription	Fetal Kidney	kidney
9	chr18:12992800-13016000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:12993000-13006400	Weak transcription	Fetal Brain Female	brain
11	chr18:12993000-13023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr18:12993200-13004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:12993200-13004800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr18:12993200-13006800	Weak transcription	HSMMtube	muscle
15	chr18:12993200-13007000	Weak transcription	Brain Substantia Nigra	brain
16	chr18:12993200-13008400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:12993200-13008400	Weak transcription	Osteobl	bone
18	chr18:12993200-13008800	Weak transcription	NHLF	lung
19	chr18:12993400-13003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr18:12993400-13006200	Weak transcription	NH-A	brain
21	chr18:12993400-13006600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr18:12993400-13008200	Weak transcription	Brain Angular Gyrus	brain
23	chr18:12993400-13017800	Weak transcription	Stomach Mucosa	stomach
24	chr18:12993600-13003600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr18:12993600-13011800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:12993600-13011800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr18:12993800-13003600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr18:12993800-13004000	Weak transcription	NHEK	skin
29	chr18:12993800-13005000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr18:12993800-13008400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr18:12993800-13008400	Weak transcription	Psoas Muscle	Psoas
32	chr18:12993800-13008400	Weak transcription	HMEC	breast
33	chr18:12993800-13008800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr18:12993800-13009200	Weak transcription	NHDF-Ad	bronchial
35	chr18:12994000-13006000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr18:12995000-13011400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:12996600-13003600	Weak transcription	Fetal Intestine Small	intestine
39	chr18:12996800-13004800	Weak transcription	Spleen	Spleen
40	chr18:12997000-13004400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr18:12997000-13004400	Weak transcription	Gastric	stomach
42	chr18:12997000-13006600	Weak transcription	Brain Hippocampus Middle	brain
43	chr18:12997000-13008200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr18:12997000-13008600	Weak transcription	Brain Anterior Caudate	brain
45	chr18:12997000-13008800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:12997200-13003800	Weak transcription	Left Ventricle	heart
47	chr18:12997200-13006800	Weak transcription	Right Atrium	heart
48	chr18:12997200-13011200	Weak transcription	Right Ventricle	heart
49	chr18:12997200-13013200	Weak transcription	Small Intestine	intestine
50	chr18:12997400-13003600	Weak transcription	Fetal Heart	heart

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