Variant report

Variant	esv3427124
Chromosome Location	chr3:137801279-137801829
allele	n/a
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	BHLHE40	chr3:137801377-137801613	K562	blood:	n/a	n/a
2	BRCA1	chr3:137801277-137801693	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr3:137801226-137801812	HCT-116	colon:	n/a	n/a
4	CEBPB	chr3:137801254-137801901	Hela-S3	cervix:	n/a	chr3:137801266-137801278
5	CEBPB	chr3:137800574-137802165	IMR90	lung:	n/a	chr3:137801266-137801278
6	CHD2	chr3:137801372-137801724	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr3:137801560-137801710	AoAF	blood vessel:	n/a	n/a
8	CTCF	chr3:137801520-137801670	HPF	lung:	n/a	n/a
9	E2F4	chr3:137801401-137801918	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr3:137801241-137801655	Hela-S3	cervix:	n/a	chr3:137801339-137801353 chr3:137801464-137801477 chr3:137801530-137801539 chr3:137801529-137801538
11	FOS	chr3:137800554-137801876	MCF10A-Er-Src	breast:	n/a	chr3:137801528-137801540 chr3:137800716-137800723 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
12	FOS	chr3:137801375-137801711	Hela-S3	cervix:	n/a	chr3:137801528-137801540 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
13	FOS	chr3:137800512-137801944	MCF10A-Er-Src	breast:	n/a	chr3:137801528-137801540 chr3:137800716-137800723 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
14	FOS	chr3:137800506-137801919	MCF10A-Er-Src	breast:	n/a	chr3:137801528-137801540 chr3:137800716-137800723 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
15	FOS	chr3:137800526-137802098	MCF10A-Er-Src	breast:	n/a	chr3:137801528-137801540 chr3:137800716-137800723 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
16	FOSL1	chr3:137801246-137801799	HCT-116	colon:	n/a	chr3:137801528-137801540 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
17	FOSL1	chr3:137801207-137801826	HCT-116	colon:	n/a	chr3:137801528-137801540 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
18	FOSL2	chr3:137800413-137801823	SK-N-SH	brain:	n/a	chr3:137801528-137801540 chr3:137800716-137800723 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
19	FOSL2	chr3:137801274-137801818	MCF-7	breast:	n/a	chr3:137801528-137801540 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
20	FOSL2	chr3:137801308-137801849	A549	lung:	n/a	chr3:137801528-137801540 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
21	FOSL2	chr3:137801372-137801655	A549	lung:	n/a	chr3:137801528-137801540 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
22	FOSL2	chr3:137801298-137801850	MCF-7	breast:	n/a	chr3:137801528-137801540 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
23	FOSL2	chr3:137801374-137801665	HepG2	liver:	n/a	chr3:137801528-137801540 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
24	FOXA1	chr3:137801379-137801783	T-47D	breast:	n/a	n/a
25	FOXA1	chr3:137801441-137801798	HepG2	liver:	n/a	n/a
26	FOXA1	chr3:137801434-137801696	ECC-1	luminal epithelium:	n/a	n/a
27	FOXA1	chr3:137801414-137801659	T-47D	breast:	n/a	n/a
28	FOXA2	chr3:137801320-137801770	A549	lung:	n/a	n/a
29	FOXA2	chr3:137801450-137801674	HepG2	liver:	n/a	n/a
30	FOXA2	chr3:137801367-137801878	A549	lung:	n/a	n/a
31	GATA3	chr3:137800765-137801821	SK-N-SH	brain:	n/a	chr3:137801281-137801290 chr3:137801280-137801292 chr3:137801281-137801291 chr3:137801278-137801294 chr3:137801278-137801294 chr3:137801281-137801290
32	GATA3	chr3:137800491-137801915	SK-N-SH	brain:	n/a	chr3:137801281-137801290 chr3:137801280-137801292 chr3:137801281-137801291 chr3:137801278-137801294 chr3:137801278-137801294 chr3:137801281-137801290
33	GTF2F1	chr3:137801260-137801654	Hela-S3	cervix:	n/a	n/a
34	HDAC2	chr3:137801289-137801831	MCF-7	breast:	n/a	chr3:137801314-137801328
35	JUN	chr3:137801341-137801744	Hela-S3	cervix:	n/a	chr3:137801528-137801540 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
36	JUND	chr3:137801172-137801810	HCT-116	colon:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
37	JUND	chr3:137800401-137801889	SK-N-SH	brain:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137800716-137800723 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
38	JUND	chr3:137801367-137801782	A549	lung:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
39	JUND	chr3:137801233-137801820	MCF-7	breast:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
40	JUND	chr3:137801353-137801706	K562	blood:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
41	JUND	chr3:137801173-137801903	HCT-116	colon:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
42	JUND	chr3:137801188-137801870	MCF-7	breast:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
43	JUND	chr3:137801337-137801683	HepG2	liver:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
44	JUND	chr3:137801393-137801599	HepG2	liver:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
45	JUND	chr3:137801296-137801853	Hela-S3	cervix:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
46	JUND	chr3:137800370-137801978	SK-N-SH	brain:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137800716-137800723 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
47	JUND	chr3:137801401-137801690	H1-hESC	embryonic stem cell:	n/a	chr3:137801528-137801540 chr3:137801528-137801539 chr3:137801529-137801538 chr3:137801530-137801537 chr3:137801530-137801539 chr3:137801530-137801538
48	KAP1	chr3:137800958-137802025	U2OS	brain:	n/a	chr3:137801531-137801540
49	KAP1	chr3:137800907-137801993	HEK293	kidney:	n/a	chr3:137801531-137801540
50	MAFK	chr3:137800587-137801648	IMR90	lung:	n/a	chr3:137801530-137801540

Variant related genes	Relation type
DZIP1L	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185810752	chr3:137801306-137801307	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs550583234	chr3:137801313-137801314	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs144977942	chr3:137801431-137801432	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539017361	chr3:137801507-137801508	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs546490469	chr3:137801513-137801514	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs149085895	chr3:137801519-137801520	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs535308780	chr3:137801522-137801523	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs555270605	chr3:137801539-137801540	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs558477307	chr3:137801562-137801563	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs377440094	chr3:137801568-137801569	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs574905827	chr3:137801600-137801601	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs112914637	chr3:137801601-137801602	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs557393192	chr3:137801602-137801603	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577190375	chr3:137801628-137801629	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs546172220	chr3:137801652-137801653	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs62280627	chr3:137801681-137801682	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368481626	chr3:137801736-137801737	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs573574785	chr3:137801741-137801742	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs534642855	chr3:137801752-137801753	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs73867013	chr3:137801760-137801761	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562124735	chr3:137801771-137801772	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs531097226	chr3:137801772-137801773	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2724694	chr3:137801774-137801775	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs1107422	chr3:137801779-137801780	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137780000-137813400	Weak transcription	HUVEC	blood vessel
2	chr3:137780600-137811600	Weak transcription	Psoas Muscle	Psoas
3	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:137783000-137802000	Weak transcription	Fetal Brain Female	brain
5	chr3:137783200-137811600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:137783200-137821200	Weak transcription	Colonic Mucosa	Colon
7	chr3:137785400-137805600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:137786000-137802000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:137787600-137806600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:137787800-137802600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:137787800-137805200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:137789800-137803200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:137789800-137803600	Strong transcription	Fetal Lung	lung
14	chr3:137790800-137802400	Weak transcription	Fetal Intestine Large	intestine
15	chr3:137790800-137802800	Weak transcription	Brain Germinal Matrix	brain
16	chr3:137792000-137802000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:137792000-137802800	Weak transcription	Liver	Liver
18	chr3:137792000-137820600	Weak transcription	Esophagus	oesophagus
19	chr3:137792200-137805200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:137792400-137818200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:137792600-137802000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:137793600-137801400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:137793800-137803600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr3:137794600-137803400	Strong transcription	Fetal Muscle Leg	muscle
25	chr3:137794600-137803400	Strong transcription	Fetal Stomach	stomach
26	chr3:137795800-137803400	Strong transcription	Aorta	Aorta
27	chr3:137796200-137801600	Weak transcription	Fetal Kidney	kidney
28	chr3:137796200-137801800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:137796200-137802400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:137796200-137803800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:137796200-137811400	Weak transcription	Fetal Brain Male	brain
32	chr3:137796400-137802800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:137796600-137803800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:137796800-137802200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:137796800-137802400	Genic enhancers	HSMM	muscle
36	chr3:137796800-137805200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:137797400-137802200	Weak transcription	Fetal Intestine Small	intestine
38	chr3:137797600-137802400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:137798000-137802000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:137798400-137801400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:137798400-137803200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:137798600-137803400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:137798800-137803200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:137798800-137803800	Strong transcription	Right Ventricle	heart
45	chr3:137799200-137801400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr3:137799400-137801400	Weak transcription	Left Ventricle	heart
47	chr3:137799400-137801600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:137799400-137803800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:137800000-137802200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:137800000-137803400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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