Variant report

Variant	rs10993387
Chromosome Location	chr9:97662496-97662497
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr9:97662120-97663737	MCF10A-Er-Src	breast:	n/a	chr9:97662291-97662300 chr9:97662293-97662300 chr9:97663467-97663478 chr9:97663470-97663481 chr9:97663469-97663477
2	STAT3	chr9:97662118-97663794	MCF10A-Er-Src	breast:	n/a	chr9:97662999-97663010
3	HDAC2	chr9:97661980-97662510	HepG2	liver:	n/a	n/a
4	RAD21	chr9:97662190-97662615	HepG2	liver:	n/a	n/a
5	BCL3	chr9:97662034-97663539	A549	lung:	n/a	chr9:97663001-97663010
6	FOXA2	chr9:97662138-97662566	A549	lung:	n/a	n/a
7	MYBL2	chr9:97661878-97662673	HepG2	liver:	n/a	n/a
8	HNF4A	chr9:97662090-97662558	HepG2	liver:	n/a	chr9:97662220-97662242 chr9:97662294-97662306
9	SP1	chr9:97661944-97662607	HepG2	liver:	n/a	chr9:97662226-97662238 chr9:97662227-97662237 chr9:97662228-97662237 chr9:97662226-97662238 chr9:97662227-97662241
10	EP300	chr9:97661866-97664031	A549	lung:	n/a	chr9:97663453-97663467 chr9:97662291-97662300
11	GTF2F1	chr9:97662481-97663390	Hela-S3	cervix:	n/a	n/a
12	EP300	chr9:97662029-97662591	HepG2	liver:	n/a	chr9:97662291-97662300
13	MAX	chr9:97661919-97664190	A549	lung:	n/a	chr9:97663469-97663478
14	HDAC2	chr9:97662101-97662560	HepG2	liver:	n/a	n/a
15	CEBPB	chr9:97661904-97662549	A549	lung:	n/a	chr9:97662115-97662126 chr9:97662115-97662126
16	RXRA	chr9:97662093-97662556	HepG2	liver:	n/a	chr9:97662225-97662239
17	HEY1	chr9:97662113-97662849	HepG2	liver:	n/a	n/a
18	NFIC	chr9:97661913-97662598	HepG2	liver:	n/a	n/a
19	RAD21	chr9:97662081-97662591	HepG2	liver:	n/a	n/a
20	FOSL2	chr9:97662100-97662529	HepG2	liver:	n/a	chr9:97662291-97662300 chr9:97662293-97662300 chr9:97662291-97662302
21	GATA3	chr9:97661839-97663601	A549	lung:	n/a	chr9:97662290-97662299
22	JUND	chr9:97662020-97662526	A549	lung:	n/a	chr9:97662291-97662300 chr9:97662293-97662300 chr9:97662290-97662301
23	SP1	chr9:97661885-97663932	A549	lung:	n/a	chr9:97662226-97662238 chr9:97662227-97662237 chr9:97662228-97662237 chr9:97662226-97662238 chr9:97662227-97662241
24	EP300	chr9:97662008-97662513	HepG2	liver:	n/a	chr9:97662291-97662300
25	TAF1	chr9:97662181-97663478	A549	lung:	n/a	n/a
26	SP1	chr9:97661873-97664041	A549	lung:	n/a	chr9:97662226-97662238 chr9:97662227-97662237 chr9:97662228-97662237 chr9:97662226-97662238 chr9:97662227-97662241
27	POLR2A	chr9:97662252-97662512	HepG2	liver:	n/a	n/a
28	SMC3	chr9:97662142-97662867	HepG2	liver:	n/a	n/a
29	MAZ	chr9:97662056-97662614	HepG2	liver:	n/a	n/a
30	BCL3	chr9:97661863-97663938	A549	lung:	n/a	chr9:97663001-97663010
31	ATF3	chr9:97662048-97663644	A549	lung:	n/a	n/a
32	NR2F2	chr9:97662113-97662705	HepG2	liver:	n/a	n/a
33	YY1	chr9:97662186-97662496	HepG2	liver:	n/a	n/a
34	FOXA1	chr9:97661960-97662529	HepG2	liver:	n/a	n/a
35	POLR2A	chr9:97662261-97662533	HepG2	liver:	n/a	n/a
36	YY1	chr9:97662202-97662510	A549	lung:	n/a	n/a
37	FOXA1	chr9:97662092-97662577	HepG2	liver:	n/a	n/a
38	TEAD4	chr9:97661838-97662613	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr9:97662465-97663257	A549	lung:	n/a	n/a
40	FOXA1	chr9:97661929-97662501	HepG2	liver:	n/a	n/a
41	MYBL2	chr9:97662002-97662748	HepG2	liver:	n/a	n/a
42	FOSL2	chr9:97661962-97662588	HepG2	liver:	n/a	chr9:97662291-97662300 chr9:97662293-97662300 chr9:97662291-97662302
43	SIX5	chr9:97662046-97663897	A549	lung:	n/a	n/a
44	REST	chr9:97662146-97662526	A549	lung:	n/a	n/a
45	HNF4A	chr9:97661996-97662538	HepG2	liver:	n/a	chr9:97662220-97662242 chr9:97662294-97662306
46	HNF4G	chr9:97662070-97662550	HepG2	liver:	n/a	chr9:97662220-97662242 chr9:97662294-97662306
47	REST	chr9:97661968-97663876	A549	lung:	n/a	n/a
48	POLR2A	chr9:97662196-97662545	HepG2	liver:	n/a	n/a
49	FOSL2	chr9:97661879-97663875	A549	lung:	n/a	chr9:97662291-97662300 chr9:97662293-97662300 chr9:97663467-97663478 chr9:97663470-97663481 chr9:97662291-97662302 chr9:97663469-97663477
50	NFIC	chr9:97662113-97662607	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000236095	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10081676	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10217143	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10761361	0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10821398	0.82[CEU][hapmap]
rs10821410	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10821413	0.90[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12338409	0.81[CEU][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12338859	0.93[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12344211	0.81[CEU][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12347649	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1867102	0.89[CEU][hapmap];0.84[CHB][hapmap];0.84[EUR][1000 genomes]
rs4743969	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs4743974	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4744386	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs4744411	0.81[CHB][hapmap]
rs4744412	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7847277	0.80[EUR][1000 genomes]
rs7862219	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7870160	0.80[JPT][hapmap];0.81[AMR][1000 genomes]
rs9802263	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97633400-97671800	Weak transcription	Esophagus	oesophagus
2	chr9:97655800-97668400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:97656400-97669000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:97657000-97663800	Weak transcription	Stomach Mucosa	stomach
5	chr9:97657200-97662600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:97657200-97662600	Weak transcription	HUVEC	blood vessel
7	chr9:97658800-97668400	Weak transcription	Pancreas	Pancrea
8	chr9:97660800-97702400	Weak transcription	Primary B cells from cord blood	blood
9	chr9:97661000-97666000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:97661600-97686200	Weak transcription	Primary T cells from cord blood	blood
11	chr9:97661800-97662600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:97661800-97662600	Enhancers	Fetal Intestine Small	intestine
13	chr9:97661800-97662600	Enhancers	Psoas Muscle	Psoas
14	chr9:97661800-97662600	Enhancers	Hela-S3	cervix
15	chr9:97661800-97662600	Enhancers	NHEK	skin
16	chr9:97661800-97662800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:97661800-97662800	Enhancers	Liver	Liver
18	chr9:97661800-97662800	Enhancers	Fetal Intestine Large	intestine
19	chr9:97661800-97662800	Enhancers	Ovary	ovary
20	chr9:97661800-97665200	Flanking Active TSS	A549	lung
21	chr9:97662000-97662600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:97662000-97662800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:97662000-97662800	Enhancers	NH-A	brain
24	chr9:97662200-97662600	Enhancers	HSMMtube	muscle
25	chr9:97662200-97662800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:97662200-97662800	Enhancers	Placenta	Placenta
27	chr9:97662200-97663800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:97662200-97663800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr9:97662200-97665200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr9:97662400-97662600	Enhancers	Colon Smooth Muscle	Colon
31	chr9:97662400-97662600	Enhancers	Fetal Lung	lung
32	chr9:97662400-97662600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr9:97662400-97662600	Enhancers	Stomach Smooth Muscle	stomach
34	chr9:97662400-97662800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:97662400-97662800	Enhancers	Lung	lung
36	chr9:97662400-97662800	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr9:97662400-97662800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr9:97662400-97662800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr9:97662400-97662800	Flanking Active TSS	NHLF	lung
40	chr9:97662400-97663000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:97662400-97663200	Flanking Active TSS	HSMM	muscle
42	chr9:97662400-97663400	Enhancers	Fetal Muscle Leg	muscle
43	chr9:97662400-97663400	Flanking Active TSS	HepG2	liver
44	chr9:97662400-97663400	Flanking Active TSS	NHDF-Ad	bronchial
45	chr9:97662400-97663400	Flanking Active TSS	Osteobl	bone
46	chr9:97662400-97663800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:97662400-97664200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr9:97662400-97664200	Enhancers	Fetal Brain Male	brain
49	chr9:97662400-97664800	Enhancers	Brain Angular Gyrus	brain
50	chr9:97662400-97664800	Enhancers	Brain Cingulate Gyrus	brain

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