Variant report

Variant	esv3350095
Chromosome Location	chr4:144332474-144333034
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	BRCA1	chr4:144332701-144333427	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr4:144332718-144333978	Hela-S3	cervix:	n/a	n/a
3	EP300	chr4:144332918-144333727	Hela-S3	cervix:	n/a	chr4:144333041-144333050
4	FOS	chr4:144332886-144333210	MCF10A-Er-Src	breast:	n/a	chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333039-144333050 chr4:144333040-144333049 chr4:144333040-144333050
5	FOS	chr4:144332936-144333183	MCF10A-Er-Src	breast:	n/a	chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333039-144333050 chr4:144333040-144333049 chr4:144333040-144333050
6	FOS	chr4:144332888-144333211	MCF10A-Er-Src	breast:	n/a	chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333039-144333050 chr4:144333040-144333049 chr4:144333040-144333050
7	FOS	chr4:144332607-144333249	HUVEC	blood vessel:	n/a	chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333039-144333050 chr4:144333040-144333049 chr4:144333040-144333050
8	FOS	chr4:144332855-144333198	MCF10A-Er-Src	breast:	n/a	chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333039-144333050 chr4:144333040-144333049 chr4:144333040-144333050
9	GATA3	chr4:144332487-144333181	SK-N-SH	brain:	n/a	chr4:144333145-144333155
10	GATA3	chr4:144332669-144333162	SK-N-SH	brain:	n/a	chr4:144333145-144333155
11	JUN	chr4:144332837-144333391	HUVEC	blood vessel:	n/a	chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333040-144333049 chr4:144333040-144333050
12	JUN	chr4:144332930-144333038	HepG2	liver:	n/a	n/a
13	JUND	chr4:144332954-144333146	HepG2	liver:	n/a	chr4:144333040-144333050 chr4:144333039-144333050 chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333040-144333049 chr4:144333040-144333050
14	JUND	chr4:144332669-144333362	SK-N-SH	brain:	n/a	chr4:144333040-144333050 chr4:144333039-144333050 chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333040-144333049 chr4:144333040-144333050
15	JUND	chr4:144332774-144333726	Hela-S3	cervix:	n/a	chr4:144333040-144333050 chr4:144333039-144333050 chr4:144333040-144333050 chr4:144333040-144333050 chr4:144333040-144333049 chr4:144333040-144333050
16	KAP1	chr4:144332615-144333829	U2OS	brain:	n/a	chr4:144332731-144332739
17	MAFK	chr4:144332851-144333938	Hela-S3	cervix:	n/a	n/a
18	NFIC	chr4:144332915-144333295	GM12878	blood:	n/a	n/a
19	PBX3	chr4:144332574-144333074	SK-N-SH	brain:	n/a	n/a
20	PBX3	chr4:144332587-144333083	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr4:144332780-144333092	ProgFib	skin:	n/a	n/a
22	RCOR1	chr4:144332920-144333296	Hela-S3	cervix:	n/a	n/a
23	RFX5	chr4:144332864-144333916	Hela-S3	cervix:	n/a	n/a
24	SETDB1	chr4:144332781-144333416	U2OS	brain:	n/a	n/a
25	SMC3	chr4:144332799-144333180	Hela-S3	cervix:	n/a	n/a
26	STAT1	chr4:144332674-144334115	Hela-S3	cervix:	n/a	chr4:144333040-144333049
27	TCF12	chr4:144332729-144333327	SK-N-SH	brain:	n/a	n/a
28	WRNIP1	chr4:144332801-144332866	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:144332828-144332878	K562	blood:	n/a
2	chr4:144332828-144332878	IMR90	lung:	fetal
3	chr4:144332828-144332878	AG10803	skin:	n/a
4	chr4:144332828-144332878	NHBE	bronchial:	n/a
5	chr4:144332828-144332878	MCF10A-Er-Src	breast:	n/a
6	chr4:144332828-144332878	SK-N-SH_RA	brain:	n/a
7	chr4:144332828-144332878	HRPEpiC	eye:	n/a
8	chr4:144332828-144332878	GM12892	blood:	n/a
9	chr4:144332828-144332878	HCF	heart:	n/a
10	chr4:144332828-144332878	HNPCEpiC	eye:	n/a
11	chr4:144332828-144332878	HUVEC	blood vessel:	n/a
12	chr4:144332828-144332878	SK-N-SH	brain:	n/a
13	chr4:144332828-144332878	MCF-7	breast:	n/a
14	chr4:144332828-144332878	HIPEpiC	eye:	n/a
15	chr4:144332828-144332878	HCM	heart:	n/a
16	chr4:144332828-144332878	BJ	skin:	n/a
17	chr4:144332828-144332878	HRCEpiC	kidney:	n/a
18	chr4:144332828-144332878	BE2_C	brain:	n/a
19	chr4:144332828-144332878	AG09309	skin:	n/a
20	chr4:144332828-144332878	HEEpiC	esophagus:	n/a
21	chr4:144332828-144332878	ECC-1	luminal epithelium:	n/a
22	chr4:144332828-144332878	HPAEpiC	pulmonary alveolar:	n/a
23	chr4:144332828-144332878	ovcar-3	ovarian:	n/a
24	chr4:144332828-144332878	Caco-2	colon:	n/a
25	chr4:144332828-144332878	NT2-D1	testis:	n/a
26	chr4:144332828-144332878	HEK293	kidney:	embryo
27	chr4:144332828-144332878	AG04450	lung:	fetal
28	chr4:144332828-144332878	Jurkat	blood:	n/a
29	chr4:144332828-144332878	GM19239	blood:	n/a
30	chr4:144332828-144332878	HAEpiC	amniotic membrane:	n/a
31	chr4:144332828-144332878	CMK	blood:	n/a
32	chr4:144332828-144332878	U87	brain:	n/a
33	chr4:144332828-144332878	AG04449	skin:	fetal
34	chr4:144332828-144332878	GM06990	blood:	n/a
35	chr4:144332828-144332878	SK-N-MC	brain:	n/a
36	chr4:144332828-144332878	GM12878	blood:	n/a
37	chr4:144332828-144332878	HepG2	liver:	n/a
38	chr4:144332828-144332878	HL-60	blood:	n/a
39	chr4:144332828-144332878	SKMC	muscle:	n/a
40	chr4:144332828-144332878	HMEC	breast:	n/a
41	chr4:144332828-144332878	PANC-1	pancreas:	n/a
42	chr4:144332828-144332878	H1-hESC	embryonic stem cell:	embryo
43	chr4:144332828-144332878	AoSMC	blood vessel:	n/a
44	chr4:144332828-144332878	Hela-S3	cervix:	n/a
45	chr4:144332828-144332878	NH-A	brain:	n/a
46	chr4:144332828-144332878	Hepatocyte	liver:	n/a
47	chr4:144332828-144332878	HCT-116	colon:	n/a
48	chr4:144332828-144332878	PFSK-1	brain:	n/a
49	chr4:144332828-144332878	GM12891	blood:	n/a
50	chr4:144332828-144332878	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:144331208..144333292-chr4:144334225..144336721,2	MCF-7	breast:
2	chr4:144325793..144327781-chr4:144331257..144333636,2	K562	blood:
3	chr4:144326817..144330491-chr4:144331809..144335886,3	K562	blood:
4	chr4:144323082..144326109-chr4:144328111..144333169,4	K562	blood:

Variant related genes	Relation type
GAB1	TF binding region
GAB1	CpG island
ENSG00000109458	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538082507	chr4:144332485-144332486	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs185369778	chr4:144332501-144332502	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs3805238	chr4:144332533-144332534	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs146604303	chr4:144332591-144332592	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141475472	chr4:144332622-144332623	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs189853785	chr4:144332683-144332684	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs542961950	chr4:144332691-144332692	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs561203534	chr4:144332699-144332700	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs62337534	chr4:144332751-144332752	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs543300624	chr4:144332767-144332768	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185514748	chr4:144332826-144332827	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532117136	chr4:144332829-144332830	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs145150517	chr4:144332856-144332857	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565358070	chr4:144332857-144332858	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs527944726	chr4:144333007-144333008	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144312800-144336800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:144318200-144337000	Weak transcription	Fetal Intestine Large	intestine
3	chr4:144318200-144362400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:144319200-144336600	Weak transcription	Fetal Kidney	kidney
5	chr4:144322200-144334000	Enhancers	Fetal Heart	heart
6	chr4:144323200-144335800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:144324600-144332800	Weak transcription	HSMM	muscle
8	chr4:144324800-144333200	Weak transcription	Fetal Brain Female	brain
9	chr4:144324800-144336800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:144326000-144336600	Weak transcription	Placenta	Placenta
11	chr4:144326200-144337200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:144326600-144336600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:144326800-144333400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:144327200-144337200	Weak transcription	Fetal Intestine Small	intestine
15	chr4:144327400-144332800	Enhancers	Brain Substantia Nigra	brain
16	chr4:144327600-144337800	Weak transcription	Colonic Mucosa	Colon
17	chr4:144327800-144361200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:144327800-144388200	Weak transcription	HepG2	liver
19	chr4:144328000-144332600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:144328000-144333000	Weak transcription	Stomach Mucosa	stomach
21	chr4:144328000-144333600	Enhancers	Colon Smooth Muscle	Colon
22	chr4:144328000-144336400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:144328000-144338600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:144328000-144338800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:144328000-144346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:144328000-144359200	Weak transcription	Esophagus	oesophagus
27	chr4:144328200-144332800	Weak transcription	Fetal Stomach	stomach
28	chr4:144328200-144333200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:144328600-144337000	Weak transcription	Liver	Liver
30	chr4:144328800-144340000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:144329000-144332600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:144329000-144332600	Weak transcription	NHDF-Ad	bronchial
33	chr4:144329000-144336600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:144329000-144359400	Weak transcription	K562	blood
35	chr4:144329200-144338200	Weak transcription	Primary B cells from cord blood	blood
36	chr4:144329400-144336200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:144329400-144336400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:144329400-144337200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:144329400-144338600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr4:144329800-144336400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:144329800-144336600	Weak transcription	Fetal Lung	lung
42	chr4:144329800-144352600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:144330000-144334200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr4:144330200-144333000	Enhancers	Right Ventricle	heart
45	chr4:144330200-144334000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr4:144331000-144332600	Enhancers	Brain Germinal Matrix	brain
47	chr4:144331200-144332600	Enhancers	Right Atrium	heart
48	chr4:144331200-144332800	Enhancers	Left Ventricle	heart
49	chr4:144331200-144333000	Enhancers	Rectal Smooth Muscle	rectum
50	chr4:144331200-144333400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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