Variant report

Variant	rs12518292
Chromosome Location	chr5:146784199-146784200
allele	C/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	FOSL2	chr5:146783528-146784401	SK-N-SH	brain:	n/a	chr5:146783748-146783757 chr5:146783749-146783758 chr5:146783749-146783757 chr5:146783749-146783756
2	POLR2A	chr5:146783466-146784263	U87	brain:	n/a	n/a
3	POU2F2	chr5:146783846-146784230	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:146783928-146784611	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:146783540-146784254	SK-N-SH	brain:	n/a	n/a
6	JUN	chr5:146783187-146784227	HUVEC	blood vessel:	n/a	chr5:146783748-146783757 chr5:146783749-146783758 chr5:146783749-146783757 chr5:146783749-146783756
7	SP1	chr5:146783835-146784289	GM12878	blood:	n/a	n/a
8	BCLAF1	chr5:146783834-146784212	GM12878	blood:	n/a	n/a
9	PBX3	chr5:146783548-146784325	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr5:146783723-146784241	HUVEC	blood vessel:	n/a	n/a
11	ZEB1	chr5:146784033-146784240	GM12878	blood:	n/a	chr5:146784227-146784235 chr5:146784157-146784166 chr5:146784159-146784166
12	RXRA	chr5:146783504-146784324	SK-N-SH	brain:	n/a	chr5:146783749-146783758 chr5:146783915-146783937 chr5:146783748-146783757
13	JUND	chr5:146783477-146784425	HCT-116	colon:	n/a	chr5:146783748-146783757 chr5:146783749-146783758 chr5:146783749-146783757 chr5:146783749-146783756
14	BATF	chr5:146783780-146784212	GM12878	blood:	n/a	chr5:146784031-146784042
15	NFIC	chr5:146783660-146784310	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:146782857-146784916	IMR90	lung:	n/a	n/a
17	MYC	chr5:146783715-146784208	HUVEC	blood vessel:	n/a	chr5:146783748-146783757
18	JUND	chr5:146782708-146784664	SK-N-SH	brain:	n/a	chr5:146783748-146783757 chr5:146783749-146783758 chr5:146783749-146783757 chr5:146783749-146783756
19	POLR2A	chr5:146783239-146787438	H1-hESC	embryonic stem cell:	n/a	n/a
20	ZKSCAN1	chr5:146783690-146784243	Hela-S3	cervix:	n/a	n/a
21	GTF2F1	chr5:146783665-146784374	Hela-S3	cervix:	n/a	n/a
22	JUN	chr5:146783572-146784209	Hela-S3	cervix:	n/a	chr5:146783748-146783757 chr5:146783749-146783758 chr5:146783749-146783757 chr5:146783749-146783756
23	EP300	chr5:146783589-146784615	GM12878	blood:	n/a	chr5:146783748-146783757 chr5:146784229-146784243 chr5:146783749-146783758
24	NFYB	chr5:146784097-146784679	GM12878	blood:	n/a	n/a
25	RAD21	chr5:146783187-146784252	IMR90	lung:	n/a	n/a
26	POLR2A	chr5:146782981-146784367	HUVEC	blood vessel:	n/a	n/a
27	STAT3	chr5:146783844-146784266	GM12878	blood:	n/a	n/a
28	IRF4	chr5:146783828-146784299	GM12878	blood:	n/a	n/a
29	MEF2A	chr5:146783656-146784308	GM12878	blood:	n/a	chr5:146783976-146783990 chr5:146783974-146783995 chr5:146783978-146783989 chr5:146783975-146783991 chr5:146783979-146783988 chr5:146783976-146783991 chr5:146783974-146783995 chr5:146783974-146783995
30	IRF4	chr5:146783804-146784286	GM12878	blood:	n/a	n/a
31	BHLHE40	chr5:146783708-146784651	GM12878	blood:	n/a	n/a
32	FOXM1	chr5:146783794-146784286	GM12878	blood:	n/a	n/a
33	CEBPB	chr5:146783245-146784251	IMR90	lung:	n/a	n/a
34	POLR2A	chr5:146783850-146784242	H1-hESC	embryonic stem cell:	n/a	n/a
35	RUNX3	chr5:146783836-146784311	GM12878	blood:	n/a	n/a
36	BCLAF1	chr5:146783860-146784236	GM12878	blood:	n/a	n/a
37	SP1	chr5:146783842-146784268	GM12878	blood:	n/a	n/a
38	EBF1	chr5:146783892-146784255	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:146783736-146784254	HCT-116	colon:	n/a	n/a
40	FOSL2	chr5:146783498-146784290	A549	lung:	n/a	chr5:146783748-146783757 chr5:146783749-146783758 chr5:146783749-146783757 chr5:146783749-146783756
41	POLR2A	chr5:146783680-146784214	HCT-116	colon:	n/a	n/a
42	JUND	chr5:146783582-146784289	Hela-S3	cervix:	n/a	chr5:146783748-146783757 chr5:146783749-146783758 chr5:146783749-146783757 chr5:146783749-146783756
43	JUND	chr5:146783448-146784370	HCT-116	colon:	n/a	chr5:146783748-146783757 chr5:146783749-146783758 chr5:146783749-146783757 chr5:146783749-146783756
44	FOSL1	chr5:146783353-146784418	HCT-116	colon:	n/a	chr5:146783748-146783757 chr5:146783749-146783758 chr5:146783749-146783757 chr5:146783749-146783756
45	YY1	chr5:146783818-146784205	GM12878	blood:	n/a	n/a
46	EBF1	chr5:146783740-146784293	GM12878	blood:	n/a	n/a
47	STAT3	chr5:146783316-146784312	MCF10A-Er-Src	breast:	n/a	chr5:146783474-146783482 chr5:146783748-146783757 chr5:146783749-146783758
48	USF2	chr5:146783823-146784605	GM12878	blood:	n/a	chr5:146784512-146784523
49	IKZF1	chr5:146783689-146784265	GM12878	blood:	n/a	n/a
50	POU2F2	chr5:146783907-146784270	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:146784171-146784221	MCF-7	breast:	n/a
2	chr5:146784171-146784221	HCM	heart:	n/a
3	chr5:146784171-146784221	PANC-1	pancreas:	n/a
4	chr5:146784171-146784221	AG04449	skin:	fetal
5	chr5:146784171-146784221	GM06990	blood:	n/a
6	chr5:146784171-146784221	AG09309	skin:	n/a
7	chr5:146784171-146784221	HEK293	kidney:	embryo
8	chr5:146784171-146784221	HCPEpiC	choroid plexus:	n/a
9	chr5:146784171-146784221	GM19239	blood:	n/a
10	chr5:146784171-146784221	BE2_C	brain:	n/a
11	chr5:146784171-146784221	BJ	skin:	n/a
12	chr5:146784171-146784221	SK-N-SH	brain:	n/a
13	chr5:146784171-146784221	RPTEC	kidney:	n/a
14	chr5:146784171-146784221	Hepatocyte	liver:	n/a
15	chr5:146784171-146784221	Jurkat	blood:	n/a
16	chr5:146784171-146784221	CMK	blood:	n/a
17	chr5:146784171-146784221	SAEC	small airway:	n/a
18	chr5:146784171-146784221	Caco-2	colon:	n/a
19	chr5:146784171-146784221	HRE	kidney:	n/a
20	chr5:146784171-146784221	HL-60	blood:	n/a
21	chr5:146784171-146784221	U87	brain:	n/a
22	chr5:146784171-146784221	PrEC	prostate:	n/a
23	chr5:146784171-146784221	HMEC	breast:	n/a
24	chr5:146784171-146784221	NB4	blood:	n/a
25	chr5:146784171-146784221	AG10803	skin:	n/a
26	chr5:146784171-146784221	GM12892	blood:	n/a
27	chr5:146784171-146784221	PFSK-1	brain:	n/a
28	chr5:146784171-146784221	HIPEpiC	eye:	n/a
29	chr5:146784171-146784221	H1-hESC	embryonic stem cell:	embryo
30	chr5:146784171-146784221	NT2-D1	testis:	n/a
31	chr5:146784171-146784221	IMR90	lung:	fetal
32	chr5:146784171-146784221	NHBE	bronchial:	n/a
33	chr5:146784171-146784221	AG09319	gingival:	n/a
34	chr5:146784171-146784221	GM12891	blood:	n/a
35	chr5:146784171-146784221	ProgFib	skin:	n/a
36	chr5:146784171-146784221	HRCEpiC	kidney:	n/a
37	chr5:146784171-146784221	AG04450	lung:	fetal
38	chr5:146784171-146784221	SK-N-MC	brain:	n/a
39	chr5:146784171-146784221	HPAEpiC	pulmonary alveolar:	n/a
40	chr5:146784171-146784221	HCF	heart:	n/a
41	chr5:146784171-146784221	LNCaP	prostate:	n/a
42	chr5:146784171-146784221	HEEpiC	esophagus:	n/a
43	chr5:146784171-146784221	MCF10A-Er-Src	breast:	n/a
44	chr5:146784171-146784221	HRPEpiC	eye:	n/a
45	chr5:146784171-146784221	AoSMC	blood vessel:	n/a
46	chr5:146784171-146784221	A549	lung:	n/a
47	chr5:146784171-146784221	HepG2	liver:	n/a
48	chr5:146784171-146784221	T-47D	breast:	n/a
49	chr5:146784171-146784221	ECC-1	luminal epithelium:	n/a
50	chr5:146784171-146784221	HCT-116	colon:	n/a

Variant related genes	Relation type
DPYSL3	TF binding region
DPYSL3	CpG island

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10515582	0.80[AMR][1000 genomes]
rs11167988	0.85[AMR][1000 genomes]
rs11167989	0.90[AMR][1000 genomes]
rs12513884	0.90[AMR][1000 genomes]
rs12514302	0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12515377	0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs12520257	0.80[AMR][1000 genomes]
rs12651731	0.80[AMR][1000 genomes]
rs12653560	0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1432853	0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1432854	0.89[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1432855	0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1432856	0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1432857	0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1544816	0.80[AMR][1000 genomes]
rs17106560	0.85[AMR][1000 genomes]
rs17106572	0.85[AMR][1000 genomes]
rs17106590	0.90[AMR][1000 genomes]
rs17106592	0.84[JPT][hapmap];0.90[AMR][1000 genomes]
rs17106597	0.90[AMR][1000 genomes]
rs17106606	0.90[AMR][1000 genomes]
rs17106679	0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17106682	0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17106683	0.90[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106686	0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17106688	0.89[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106689	0.90[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106690	0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17106698	0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17106701	0.81[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs17106709	0.85[AMR][1000 genomes]
rs2288800	0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2288805	0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2288809	0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2304043	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2304047	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2895681	0.90[AMR][1000 genomes]
rs3213857	0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3749721	0.84[JPT][hapmap];0.90[AMR][1000 genomes]
rs3792837	0.90[AMR][1000 genomes]
rs3792839	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3792840	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3792841	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3792843	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3792844	0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3792845	0.89[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs3792846	0.89[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs3805533	0.84[JPT][hapmap];0.90[AMR][1000 genomes]
rs3805534	0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3805535	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs3805538	0.95[ASN][1000 genomes]
rs3805539	0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3805540	0.90[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3805542	0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3805543	0.88[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3805544	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs3805545	0.81[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3805546	0.81[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3816012	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4642416	0.90[AMR][1000 genomes]
rs6873278	1.00[YRI][hapmap]
rs6891468	0.90[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs6899104	0.84[AFR][1000 genomes]
rs7714137	0.84[AFR][1000 genomes]
rs972302	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription 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	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146762800-146784200	Weak transcription	Colonic Mucosa	Colon
2	chr5:146767800-146796600	Strong transcription	Brain Germinal Matrix	brain
3	chr5:146769400-146800600	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:146769800-146810400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:146770000-146800600	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr5:146770200-146784800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:146770200-146805200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:146770200-146810800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:146770400-146796600	Strong transcription	Fetal Brain Female	brain
10	chr5:146770400-146800600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:146770600-146798200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:146770600-146800400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:146771600-146786600	Weak transcription	Gastric	stomach
14	chr5:146772800-146795600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:146773600-146788200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:146773600-146800600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:146774000-146799400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:146774200-146796800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr5:146774600-146784200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:146775400-146797000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:146776200-146796000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:146777600-146796800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:146777600-146800600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr5:146777800-146790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:146778800-146785000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:146779800-146798400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:146780200-146784600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:146780400-146796800	Weak transcription	Spleen	Spleen
29	chr5:146780800-146796600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:146781200-146784200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:146781200-146784200	Weak transcription	Fetal Intestine Small	intestine
32	chr5:146781400-146784400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:146781400-146784600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:146782400-146784800	Enhancers	Aorta	Aorta
35	chr5:146782400-146784800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr5:146782400-146790600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:146782600-146784200	Enhancers	NH-A	brain
38	chr5:146782600-146784400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:146782600-146784600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:146782600-146785400	Enhancers	HUVEC	blood vessel
41	chr5:146782800-146784400	Enhancers	Rectal Smooth Muscle	rectum
42	chr5:146782800-146791800	Enhancers	Fetal Heart	heart
43	chr5:146783000-146784200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:146783000-146785400	Genic enhancers	Fetal Muscle Leg	muscle
45	chr5:146783200-146784200	Enhancers	Fetal Lung	lung
46	chr5:146783200-146784200	Flanking Active TSS	Hela-S3	cervix
47	chr5:146783200-146784400	Enhancers	Brain Angular Gyrus	brain
48	chr5:146783200-146784400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr5:146783200-146784600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:146783200-146784600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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