Variant report

Variant	rs692833
Chromosome Location	chr18:13135433-13135434
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13133544..13136413-chr18:13146335..13148164,2	K562	blood:
2	chr18:13130413..13132086-chr18:13135033..13137817,2	MCF-7	breast:
3	chr18:13134910..13136836-chr18:13149613..13152006,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10221326	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11080620	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11663049	0.82[EUR][1000 genomes]
rs12605638	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12955780	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1786263	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1786270	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1786279	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1787000	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1787003	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1787004	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1787008	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1973779	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28619103	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28641764	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2902856	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35790309	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs472992	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs473580	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs474337	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs475139	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs478006	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs482360	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs482577	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs490853	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs491349	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs492458	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs492723	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs498685	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs518145	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs527839	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs529620	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs547084	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs554719	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs554854	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs556371	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs556536	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs557846	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs562151	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs565832	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs567031	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs569453	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs576963	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs578208	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6505775	0.81[EUR][1000 genomes]
rs6505776	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6505777	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6505780	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs692964	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71353243	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7226616	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7229870	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7233600	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7233814	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7234094	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7234960	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7236162	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7237236	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7243660	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8088313	0.81[EUR][1000 genomes]
rs8097038	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8097125	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9783859	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9783903	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9949589	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9961669	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9964466	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv515878	chr18:13122618-13142415	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs692833	CEP192	cis	Nerve Tibial	GTEx
rs692833	CEP192	cis	lung	GTEx
rs692833	CEP192	cis	Artery Tibial	GTEx
rs692833	CEP192	cis	Stomach	GTEx
rs692833	CEP192	Cis_1M	lymphoblastoid	RTeQTL
rs692833	CEP192	cis	Whole Blood	GTEx
rs692833	CEP192	cis	Skin Sun Exposed Lower leg	GTEx
rs692833	CEP192	cis	Thyroid	GTEx
rs692833	CEP192	cis	Esophagus Muscularis	GTEx
rs692833	CEP192	cis	Artery Aorta	GTEx
rs692833	CEP192	cis	Esophagus Mucosa	GTEx
rs692833	CEP192	cis	Adipose Subcutaneous	GTEx
rs692833	CEP192	cis	Heart Left Ventricle	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13118400-13135600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr18:13118400-13136200	Weak transcription	Psoas Muscle	Psoas
3	chr18:13118800-13136800	Weak transcription	HSMMtube	muscle
4	chr18:13119000-13136400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr18:13119200-13135800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr18:13119200-13136400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr18:13121200-13136400	Weak transcription	NHDF-Ad	bronchial
8	chr18:13121400-13136600	Weak transcription	Brain Angular Gyrus	brain
9	chr18:13121600-13135800	Weak transcription	Fetal Brain Male	brain
10	chr18:13121600-13136000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:13121800-13136400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr18:13122000-13136400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr18:13123800-13136400	Weak transcription	HSMM	muscle
14	chr18:13125600-13135800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr18:13127000-13136200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr18:13127000-13136200	Weak transcription	Placenta	Placenta
17	chr18:13127200-13135800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr18:13127200-13136200	Weak transcription	Brain Anterior Caudate	brain
19	chr18:13127400-13135600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr18:13127400-13135800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr18:13127400-13135800	Weak transcription	GM12878-XiMat	blood
22	chr18:13127400-13136400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:13127600-13135600	Weak transcription	Fetal Brain Female	brain
24	chr18:13127600-13135800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr18:13127600-13135800	Weak transcription	Left Ventricle	heart
26	chr18:13127600-13135800	Weak transcription	Thymus	Thymus
27	chr18:13127600-13136000	Weak transcription	Adipose Nuclei	Adipose
28	chr18:13127600-13136000	Weak transcription	Colonic Mucosa	Colon
29	chr18:13127600-13136000	Weak transcription	Gastric	stomach
30	chr18:13127600-13136200	Weak transcription	Esophagus	oesophagus
31	chr18:13127600-13136200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr18:13127600-13136400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:13127600-13136600	Weak transcription	Right Ventricle	heart
34	chr18:13127600-13136800	Weak transcription	Aorta	Aorta
35	chr18:13127800-13135800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr18:13127800-13135800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr18:13127800-13136000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:13127800-13136200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr18:13127800-13136400	Weak transcription	Primary B cells from cord blood	blood
40	chr18:13127800-13136400	Weak transcription	Primary T cells from cord blood	blood
41	chr18:13127800-13136400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr18:13127800-13136400	Weak transcription	Brain Substantia Nigra	brain
43	chr18:13128200-13135800	Weak transcription	Brain Hippocampus Middle	brain
44	chr18:13128200-13136000	Weak transcription	Liver	Liver
45	chr18:13128600-13136000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr18:13129600-13135600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr18:13129600-13135600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr18:13129600-13136000	Weak transcription	Spleen	Spleen
49	chr18:13129600-13136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr18:13129800-13135800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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