Variant report

Variant	rs693301
Chromosome Location	chr18:13097207-13097208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13072561..13074089-chr18:13096896..13098580,2	K562	blood:

Variant related genes	Relation type
ENSG00000101639	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11661908	0.80[MEX][hapmap]
rs1787013	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2000666	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2509751	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs475438	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs476191	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs487399	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs513897	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs516572	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs544011	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs547033	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs571002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs571218	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs878484	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs693301	CEP192	cis	Artery Aorta	GTEx
rs693301	CEP192	cis	Esophagus Mucosa	GTEx
rs693301	CEP192	cis	lung	GTEx
rs693301	CEP192	cis	Nerve Tibial	GTEx
rs693301	CEP192	cis	multi-tissue	Pritchard
rs693301	CEP192	cis	Thyroid	GTEx
rs693301	CEP192	cis	cerebellum	SCAN
rs693301	CEP192	cis	Brain Pons	GTEx
rs693301	CEP192	cis	Adipose Subcutaneous	GTEx
rs693301	CEP192	cis	parietal	SCAN
rs693301	CEP192	cis	Esophagus Muscularis	GTEx
rs693301	CEP192	cis	Skin Sun Exposed Lower leg	GTEx
rs693301	CEP192	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13075400-13105400	Weak transcription	Psoas Muscle	Psoas
3	chr18:13083200-13097600	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr18:13084800-13097400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:13086000-13097400	Strong transcription	Primary B cells from peripheral blood	blood
6	chr18:13086000-13097600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr18:13086000-13098000	Strong transcription	Fetal Thymus	thymus
8	chr18:13086000-13109400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr18:13086200-13097600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr18:13086200-13098200	Strong transcription	Liver	Liver
11	chr18:13086400-13097600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr18:13086400-13097600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr18:13086400-13097600	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr18:13086400-13097600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr18:13086400-13128000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr18:13086600-13097600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr18:13087000-13097400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:13087000-13097600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr18:13087000-13098000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr18:13087400-13097800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:13087600-13097600	Strong transcription	GM12878-XiMat	blood
22	chr18:13088800-13097600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr18:13089400-13122200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr18:13089600-13097400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr18:13089800-13097400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr18:13089800-13097600	Strong transcription	Primary B cells from cord blood	blood
27	chr18:13090400-13097400	Strong transcription	HSMM	muscle
28	chr18:13090400-13097600	Strong transcription	Hela-S3	cervix
29	chr18:13090600-13097400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:13090600-13097400	Strong transcription	Fetal Intestine Large	intestine
31	chr18:13090600-13097600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:13090600-13097600	Strong transcription	Primary T cells from cord blood	blood
33	chr18:13090600-13097600	Strong transcription	Adipose Nuclei	Adipose
34	chr18:13090600-13097600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr18:13090600-13097800	Strong transcription	Thymus	Thymus
36	chr18:13090600-13098400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr18:13090600-13109200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr18:13090800-13097600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr18:13090800-13097600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr18:13091000-13097400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr18:13091200-13110800	Weak transcription	Right Atrium	heart
42	chr18:13091400-13098400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr18:13092000-13097600	Strong transcription	Brain Germinal Matrix	brain
44	chr18:13092000-13097600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr18:13092400-13097400	Strong transcription	Osteobl	bone
46	chr18:13092400-13097600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:13092800-13097600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr18:13092800-13097800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr18:13092800-13099400	Strong transcription	Fetal Stomach	stomach
50	chr18:13092800-13106800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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