Variant report

Variant	rs4743163
Chromosome Location	chr9:100854920-100854921
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:100854353-100854981	H1-hESC	embryonic stem cell:	n/a	n/a
2	SPI1	chr9:100854893-100855260	HL-60	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100854857..100858216-chr9:100859815..100862385,4	K562	blood:
2	chr9:100836616..100838130-chr9:100853751..100855728,2	K562	blood:
3	chr9:100849256..100851636-chr9:100854662..100858526,4	MCF-7	breast:
4	chr9:100849838..100852817-chr9:100854861..100857855,4	MCF-7	breast:
5	chr9:100819004..100820789-chr9:100854136..100855949,2	K562	blood:

No data

Variant related genes	Relation type
TRIM14	TF binding region
ENSG00000095380	Chromatin interaction
ENSG00000106785	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10818475	0.84[ASN][1000 genomes]
rs10984988	0.85[ASN][1000 genomes]
rs13049	1.00[CEU][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2181582	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2417726	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2417729	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3199064	1.00[ASW][hapmap];0.85[TSI][hapmap]
rs4237190	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4412474	0.87[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4742714	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6478537	1.00[ASW][hapmap];0.85[TSI][hapmap]
rs7021804	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7042169	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7857813	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7872652	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs942167	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9918951	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1040483	chr9:100835325-100868437	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4743163	CORO2A	cis	multi-tissue	Pritchard

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100839400-100861800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr9:100845200-100856200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:100845200-100856600	Weak transcription	Small Intestine	intestine
4	chr9:100846000-100862600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr9:100846200-100862200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr9:100846400-100856400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr9:100846400-100861200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:100847400-100859400	Weak transcription	HepG2	liver
9	chr9:100847400-100869400	Weak transcription	A549	lung
10	chr9:100847600-100867000	Weak transcription	Hela-S3	cervix
11	chr9:100849200-100856400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr9:100849600-100856400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr9:100849800-100856200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr9:100849800-100856400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:100850400-100856600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:100850400-100856600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:100850400-100856600	Weak transcription	Esophagus	oesophagus
18	chr9:100850400-100856600	Weak transcription	Gastric	stomach
19	chr9:100850400-100856600	Weak transcription	Stomach Mucosa	stomach
20	chr9:100850400-100856800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr9:100850400-100857800	Weak transcription	Aorta	Aorta
22	chr9:100850400-100858000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr9:100850400-100859000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:100850400-100861000	Weak transcription	HMEC	breast
25	chr9:100850400-100868000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:100850400-100880400	Weak transcription	HSMM	muscle
27	chr9:100850600-100855400	Weak transcription	Colonic Mucosa	Colon
28	chr9:100850600-100856400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:100850600-100856600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:100850600-100856800	Weak transcription	Brain Anterior Caudate	brain
31	chr9:100850600-100857200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:100850600-100858000	Weak transcription	Brain Hippocampus Middle	brain
33	chr9:100850600-100863000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr9:100850600-100864400	Weak transcription	Brain Germinal Matrix	brain
35	chr9:100850600-100875400	Weak transcription	NHLF	lung
36	chr9:100850600-100880600	Weak transcription	Fetal Lung	lung
37	chr9:100850800-100857000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr9:100850800-100858600	Weak transcription	Primary B cells from cord blood	blood
39	chr9:100850800-100859000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr9:100851000-100862800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr9:100851400-100859600	Strong transcription	Fetal Intestine Small	intestine
42	chr9:100851400-100861200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:100851600-100859800	Strong transcription	Primary T cells from cord blood	blood
44	chr9:100851800-100860200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr9:100852000-100859000	Weak transcription	GM12878-XiMat	blood
46	chr9:100852000-100861600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:100852800-100858800	Weak transcription	K562	blood
48	chr9:100853000-100855000	Active TSS	Brain Angular Gyrus	brain
49	chr9:100853000-100862400	Genic enhancers	Primary T cells fromperipheralblood	blood
50	chr9:100853200-100855000	Active TSS	Brain Inferior Temporal Lobe	brain

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