Variant report

Variant	rs571218
Chromosome Location	chr18:13127923-13127924
allele	C/T
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:

Extended variants
information (count: 22 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1787013	0.96[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs2000666	0.92[ASN][1000 genomes]
rs2509751	0.87[ASN][1000 genomes]
rs475438	0.86[ASN][1000 genomes]
rs476191	0.87[ASN][1000 genomes]
rs487399	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs513897	0.81[EUR][1000 genomes]
rs516572	0.96[CEU][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes]
rs544011	0.87[ASN][1000 genomes]
rs547033	0.83[EUR][1000 genomes]
rs571002	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs693301	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs878484	0.90[EUR][1000 genomes];0.82[ASN][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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs571218	CEP192	cis	lung	GTEx
rs571218	CEP192	cis	Artery Tibial	GTEx
rs571218	CEP192	cis	Thyroid	GTEx
rs571218	CEP192	cis	Nerve Tibial	GTEx
rs571218	CEP192	Cis_1M	lymphoblastoid	RTeQTL
rs571218	CEP192	cis	Brain Pons	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13086400-13128000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr18:13099200-13128200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr18:13099400-13129400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr18:13106200-13130000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr18:13106800-13135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:13107000-13130400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:13116200-13128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr18:13116200-13130000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:13118000-13130000	Weak transcription	Small Intestine	intestine
10	chr18:13118200-13132600	Weak transcription	HepG2	liver
11	chr18:13118400-13135600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr18:13118400-13136200	Weak transcription	Psoas Muscle	Psoas
13	chr18:13118800-13130600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr18:13118800-13136800	Weak transcription	HSMMtube	muscle
15	chr18:13119000-13130800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr18:13119000-13133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:13119000-13134200	Weak transcription	Fetal Lung	lung
18	chr18:13119000-13136400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr18:13119200-13135800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr18:13119200-13136400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr18:13119400-13130000	Weak transcription	A549	lung
22	chr18:13119400-13133600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr18:13119600-13135400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr18:13121200-13136400	Weak transcription	NHDF-Ad	bronchial
25	chr18:13121400-13134000	Weak transcription	HMEC	breast
26	chr18:13121400-13136600	Weak transcription	Brain Angular Gyrus	brain
27	chr18:13121600-13129600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr18:13121600-13131600	Weak transcription	Fetal Kidney	kidney
29	chr18:13121600-13135800	Weak transcription	Fetal Brain Male	brain
30	chr18:13121600-13136000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr18:13121800-13129600	Weak transcription	NH-A	brain
32	chr18:13121800-13134200	Weak transcription	HUVEC	blood vessel
33	chr18:13121800-13136400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr18:13122000-13129400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr18:13122000-13136400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr18:13123800-13136400	Weak transcription	HSMM	muscle
37	chr18:13124200-13128200	Enhancers	Liver	Liver
38	chr18:13124800-13130200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr18:13124800-13131400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr18:13125400-13129800	Weak transcription	Hela-S3	cervix
41	chr18:13125400-13130800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:13125600-13135800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr18:13126000-13128400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr18:13126200-13128000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr18:13126200-13128000	Strong transcription	Brain Germinal Matrix	brain
46	chr18:13126200-13128200	Strong transcription	Fetal Thymus	thymus
47	chr18:13126200-13130800	Strong transcription	Fetal Stomach	stomach
48	chr18:13126400-13128000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr18:13126400-13128200	Strong transcription	Brain Hippocampus Middle	brain
50	chr18:13126400-13128600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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