Variant report

Variant	rs34117444
Chromosome Location	chr18:13129017-13129018
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	chr18:13122649..13124818-chr18:13125733..13129086,3	K562	blood:
2	chr18:13128234..13129969-chr18:13130472..13133331,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10163827	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11659979	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11661559	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11662634	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11664213	0.83[EUR][1000 genomes]
rs11664469	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12326275	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12327306	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12953783	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12957380	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12960349	0.83[EUR][1000 genomes]
rs13381134	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13381779	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17603207	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17659896	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1786978	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1893323	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2282540	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2282541	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28654613	0.91[EUR][1000 genomes]
rs34003232	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34302481	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35563947	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs489480	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs496270	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs518227	0.92[ASN][1000 genomes]
rs71353241	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7228684	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7234938	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7236710	0.92[EUR][1000 genomes]
rs8566	0.85[AMR][1000 genomes];0.83[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34117444	CEP192	Cis_1M	lymphoblastoid	RTeQTL
rs34117444	CEP192	cis	Artery Tibial	GTEx
rs34117444	CEP192	cis	Thyroid	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13099400-13129400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr18:13106200-13130000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr18:13106800-13135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:13107000-13130400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:13116200-13130000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:13118000-13130000	Weak transcription	Small Intestine	intestine
7	chr18:13118200-13132600	Weak transcription	HepG2	liver
8	chr18:13118400-13135600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr18:13118400-13136200	Weak transcription	Psoas Muscle	Psoas
10	chr18:13118800-13130600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr18:13118800-13136800	Weak transcription	HSMMtube	muscle
12	chr18:13119000-13130800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr18:13119000-13133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr18:13119000-13134200	Weak transcription	Fetal Lung	lung
15	chr18:13119000-13136400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr18:13119200-13135800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr18:13119200-13136400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr18:13119400-13130000	Weak transcription	A549	lung
19	chr18:13119400-13133600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr18:13119600-13135400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:13121200-13136400	Weak transcription	NHDF-Ad	bronchial
22	chr18:13121400-13134000	Weak transcription	HMEC	breast
23	chr18:13121400-13136600	Weak transcription	Brain Angular Gyrus	brain
24	chr18:13121600-13129600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr18:13121600-13131600	Weak transcription	Fetal Kidney	kidney
26	chr18:13121600-13135800	Weak transcription	Fetal Brain Male	brain
27	chr18:13121600-13136000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:13121800-13129600	Weak transcription	NH-A	brain
29	chr18:13121800-13134200	Weak transcription	HUVEC	blood vessel
30	chr18:13121800-13136400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr18:13122000-13129400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:13122000-13136400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr18:13123800-13136400	Weak transcription	HSMM	muscle
34	chr18:13124800-13130200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr18:13124800-13131400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr18:13125400-13129800	Weak transcription	Hela-S3	cervix
37	chr18:13125400-13130800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr18:13125600-13135800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr18:13126200-13130800	Strong transcription	Fetal Stomach	stomach
40	chr18:13126400-13130800	Strong transcription	Fetal Intestine Small	intestine
41	chr18:13126600-13135000	Weak transcription	Ovary	ovary
42	chr18:13126800-13129600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr18:13126800-13129600	Strong transcription	Fetal Muscle Leg	muscle
44	chr18:13126800-13131200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr18:13126800-13133400	Weak transcription	K562	blood
46	chr18:13127000-13133400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr18:13127000-13135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr18:13127000-13136200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr18:13127000-13136200	Weak transcription	Placenta	Placenta
50	chr18:13127200-13130400	Weak transcription	Osteobl	bone

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