Variant report

Variant	rs4448343
Chromosome Location	chr9:98266370-98266371
allele	A/G
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	MAX	chr9:98266357-98266595	HepG2	liver:	n/a	n/a
2	FOS	chr9:98266340-98266664	HUVEC	blood vessel:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266470-98266481 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
3	JUND	chr9:98266316-98267086	K562	blood:	n/a	chr9:98266473-98266480 chr9:98266470-98266481 chr9:98266471-98266480 chr9:98266936-98266945 chr9:98266656-98266665 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
4	EP300	chr9:98266263-98266720	A549	lung:	n/a	chr9:98266471-98266480
5	MAFK	chr9:98266350-98266800	HepG2	liver:	n/a	n/a
6	MAZ	chr9:98266363-98266552	HepG2	liver:	n/a	n/a
7	CEBPB	chr9:98266288-98266597	K562	blood:	n/a	n/a
8	MAFK	chr9:98266356-98266614	K562	blood:	n/a	n/a
9	ARID3A	chr9:98266249-98267286	HepG2	liver:	n/a	n/a
10	FOXA1	chr9:98266255-98266758	HepG2	liver:	n/a	n/a
11	BHLHE40	chr9:98266288-98266595	HepG2	liver:	n/a	n/a
12	STAT3	chr9:98266343-98266554	MCF10A-Er-Src	breast:	n/a	n/a
13	JUND	chr9:98266285-98266678	HepG2	liver:	n/a	chr9:98266473-98266480 chr9:98266470-98266481 chr9:98266471-98266480 chr9:98266656-98266665 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
14	STAT3	chr9:98266340-98266598	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr9:98266355-98266599	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr9:98266299-98266626	MCF10A-Er-Src	breast:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266470-98266481 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
17	GATA3	chr9:98266241-98266864	A549	lung:	n/a	n/a
18	CEBPB	chr9:98266277-98266613	HepG2	liver:	n/a	n/a
19	JUN	chr9:98266292-98266652	HepG2	liver:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
20	TEAD4	chr9:98266227-98266720	HepG2	liver:	n/a	n/a
21	FOXA2	chr9:98266335-98266659	HepG2	liver:	n/a	n/a
22	SP1	chr9:98266273-98266666	HepG2	liver:	n/a	chr9:98266515-98266528
23	BATF	chr9:98266336-98266581	GM12878	blood:	n/a	n/a
24	ZNF384	chr9:98266341-98266562	GM12878	blood:	n/a	n/a
25	JUN	chr9:98266334-98267165	K562	blood:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266936-98266945 chr9:98266656-98266665 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
26	MAFF	chr9:98266346-98266658	HepG2	liver:	n/a	chr9:98266473-98266491
27	CEBPB	chr9:98266282-98266664	A549	lung:	n/a	n/a
28	MYBL2	chr9:98266307-98266731	HepG2	liver:	n/a	n/a
29	ZBTB7A	chr9:98266334-98266579	HepG2	liver:	n/a	n/a
30	FOXA2	chr9:98266328-98266971	HepG2	liver:	n/a	n/a
31	FOSL2	chr9:98266314-98266659	A549	lung:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266471-98266482 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
32	EP300	chr9:98266335-98266666	HepG2	liver:	n/a	chr9:98266471-98266480
33	FOXA2	chr9:98266144-98266828	A549	lung:	n/a	n/a
34	SP1	chr9:98266219-98266804	A549	lung:	n/a	chr9:98266515-98266528
35	JUND	chr9:98266343-98266617	HepG2	liver:	n/a	chr9:98266473-98266480 chr9:98266470-98266481 chr9:98266471-98266480 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
36	CEBPD	chr9:98266329-98266579	HepG2	liver:	n/a	n/a
37	CEBPB	chr9:98266295-98266627	HepG2	liver:	n/a	n/a
38	FOXA1	chr9:98266360-98266556	T-47D	breast:	n/a	n/a
39	BATF	chr9:98266338-98266593	GM12878	blood:	n/a	n/a
40	BHLHE40	chr9:98266333-98266803	HepG2	liver:	n/a	n/a
41	HDAC2	chr9:98266302-98266684	HepG2	liver:	n/a	chr9:98266544-98266558
42	FOSL2	chr9:98266254-98266734	A549	lung:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266471-98266482 chr9:98266656-98266665 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
43	FOS	chr9:98266293-98266656	MCF10A-Er-Src	breast:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266470-98266481 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479
44	TCF12	chr9:98266217-98266756	A549	lung:	n/a	n/a
45	CEBPB	chr9:98266243-98266642	IMR90	lung:	n/a	n/a
46	CEBPB	chr9:98266257-98266610	A549	lung:	n/a	n/a
47	CEBPB	chr9:98266334-98266682	MCF-7	breast:	n/a	n/a
48	FOXA2	chr9:98266148-98266687	A549	lung:	n/a	n/a
49	MAFK	chr9:98266345-98266695	HepG2	liver:	n/a	n/a
50	FOS	chr9:98266306-98266657	MCF10A-Er-Src	breast:	n/a	chr9:98266473-98266480 chr9:98266471-98266480 chr9:98266470-98266481 chr9:98266475-98266487 chr9:98266470-98266481 chr9:98266471-98266481 chr9:98266468-98266479

No.	Distal block	Cell Line	Cell type
1	chr9:98243853..98250190-chr9:98264163..98273969,14	MCF-7	breast:
2	chr9:98246124..98248586-chr9:98264978..98268110,3	K562	blood:
3	chr9:98187278..98190652-chr9:98265637..98273315,6	K562	blood:
4	chr9:98210232..98214386-chr9:98264282..98269915,4	K562	blood:
5	chr9:98262143..98268122-chr9:98269863..98275996,9	MCF-7	breast:
6	chr9:98187644..98190286-chr9:98266151..98268622,2	K562	blood:

Variant related genes	Relation type
PTCH1	TF binding region
ENSG00000271155	TF binding region
ENSG00000185920	Chromatin interaction
ENSG00000237857	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10512248	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1355619	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355620	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16909919	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066829	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2236407	0.84[CHB][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2282042	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2297086	0.84[CHB][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2297088	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28457763	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28495472	0.83[ASN][1000 genomes]
rs28496034	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28504650	0.87[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28536201	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28557305	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28591501	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28620668	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28629854	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28701981	0.85[JPT][hapmap];0.85[MEX][hapmap]
rs3758302	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv430083	chr9:98204245-98445645	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv824994	chr9:98239963-98314431	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv824995	chr9:98243455-98326547	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv824996	chr9:98245375-98283861	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3395842	chr9:98265883-98266425	Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3506293	chr9:98265908-98266420	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3506295	chr9:98265924-98266433	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3506290	chr9:98265929-98266384	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3482545	chr9:98265934-98266380	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv3506292	chr9:98265935-98266438	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3482544	chr9:98265937-98266405	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv3506291	chr9:98265951-98266388	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv5236	chr9:98265957-98266462	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv3482546	chr9:98266016-98266371	Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4448343	ZNF367	cis	cerebellum	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98223400-98266400	Weak transcription	Hela-S3	cervix
2	chr9:98240200-98267400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:98242400-98266400	Weak transcription	HSMMtube	muscle
4	chr9:98242800-98266600	Weak transcription	Adipose Nuclei	Adipose
5	chr9:98243000-98267800	Weak transcription	Aorta	Aorta
6	chr9:98254000-98267400	Weak transcription	Small Intestine	intestine
7	chr9:98257400-98266600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:98257400-98267000	Enhancers	Brain Hippocampus Middle	brain
9	chr9:98258000-98266400	Enhancers	Ovary	ovary
10	chr9:98258600-98266400	Weak transcription	Esophagus	oesophagus
11	chr9:98259600-98266600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:98260000-98266400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:98260000-98266600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr9:98260400-98266400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:98260400-98266400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:98260400-98266400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:98260800-98266400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr9:98260800-98266400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:98260800-98266400	Weak transcription	NHDF-Ad	bronchial
20	chr9:98260800-98266600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:98260800-98267000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr9:98261400-98266800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:98261600-98266400	Weak transcription	Colon Smooth Muscle	Colon
24	chr9:98262200-98266800	Enhancers	Fetal Heart	heart
25	chr9:98262400-98266600	Weak transcription	Osteobl	bone
26	chr9:98262600-98266400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:98262600-98266400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr9:98262600-98266400	Weak transcription	HSMM	muscle
29	chr9:98262600-98266400	Weak transcription	NH-A	brain
30	chr9:98262600-98266600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr9:98262600-98266600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:98262800-98266400	Weak transcription	Fetal Muscle Leg	muscle
33	chr9:98262800-98266400	Weak transcription	HMEC	breast
34	chr9:98262800-98267600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr9:98263000-98266400	Weak transcription	Fetal Intestine Small	intestine
36	chr9:98263000-98267800	Weak transcription	Placenta	Placenta
37	chr9:98263000-98267800	Weak transcription	Lung	lung
38	chr9:98263200-98266400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:98263200-98266400	Weak transcription	Fetal Intestine Large	intestine
40	chr9:98263400-98266600	Enhancers	Brain Cingulate Gyrus	brain
41	chr9:98263400-98266600	Enhancers	Brain Substantia Nigra	brain
42	chr9:98264000-98266600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:98264000-98267000	Enhancers	Brain Angular Gyrus	brain
44	chr9:98264000-98267600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr9:98264200-98266400	Enhancers	Brain Anterior Caudate	brain
46	chr9:98264200-98267200	Enhancers	Pancreas	Pancrea
47	chr9:98264400-98267200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr9:98264600-98266400	Weak transcription	Left Ventricle	heart
49	chr9:98264600-98266400	Weak transcription	Right Ventricle	heart
50	chr9:98264600-98266600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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