Variant report

Variant	esv1799158
Chromosome Location	chr4:103556316-103580296
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	CEBPB	chr4:103564008-103564367	K562	blood:	n/a	n/a
2	CEBPB	chr4:103564010-103564395	IMR90	lung:	n/a	n/a
3	E2F4	chr4:103567142-103567300	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr4:103561888-103562261	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr4:103564167-103564511	SK-N-SH_RA	brain:	n/a	n/a
6	FOS	chr4:103561557-103562366	HUVEC	blood vessel:	n/a	chr4:103562007-103562016 chr4:103562006-103562017 chr4:103562005-103562016
7	FOS	chr4:103561988-103562046	MCF10A-Er-Src	breast:	n/a	chr4:103562007-103562016 chr4:103562006-103562017 chr4:103562005-103562016
8	FOS	chr4:103572758-103572982	HUVEC	blood vessel:	n/a	chr4:103572878-103572889
9	FOS	chr4:103561862-103562158	MCF10A-Er-Src	breast:	n/a	chr4:103562006-103562017 chr4:103562007-103562016 chr4:103562005-103562016
10	FOS	chr4:103562002-103562119	MCF10A-Er-Src	breast:	n/a	chr4:103562007-103562016 chr4:103562006-103562017 chr4:103562005-103562016
11	FOS	chr4:103561862-103562160	MCF10A-Er-Src	breast:	n/a	chr4:103562007-103562016 chr4:103562006-103562017 chr4:103562005-103562016
12	FOSL2	chr4:103561690-103562262	SK-N-SH	brain:	n/a	chr4:103562007-103562016 chr4:103562006-103562017
13	GATA3	chr4:103561710-103562458	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr4:103561784-103562353	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr4:103571226-103571426	SH-SY5Y	brain:	n/a	n/a
16	JUN	chr4:103556684-103556892	K562	blood:	n/a	n/a
17	JUN	chr4:103571320-103571486	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUN	chr4:103561860-103562202	HUVEC	blood vessel:	n/a	chr4:103562007-103562016 chr4:103562006-103562017
19	JUND	chr4:103561708-103562330	SK-N-SH	brain:	n/a	chr4:103562007-103562016 chr4:103562006-103562017
20	JUND	chr4:103575570-103575762	HepG2	liver:	n/a	chr4:103575639-103575648 chr4:103575594-103575603
21	MAFK	chr4:103572610-103572728	HepG2	liver:	n/a	n/a
22	MAFK	chr4:103572556-103572750	HepG2	liver:	n/a	n/a
23	MAFK	chr4:103563303-103563462	K562	blood:	n/a	n/a
24	MAFK	chr4:103572623-103572807	IMR90	lung:	n/a	n/a
25	NFIC	chr4:103561786-103562370	SK-N-SH	brain:	n/a	n/a
26	PBX3	chr4:103561754-103562387	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr4:103577309-103577383	ProgFib	skin:	n/a	n/a
28	POLR2A	chr4:103561670-103562340	HUVEC	blood vessel:	n/a	n/a
29	STAT3	chr4:103579974-103580073	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr4:103564356-103564360	MCF10A-Er-Src	breast:	n/a	n/a
31	TCF12	chr4:103561682-103562436	SK-N-SH	brain:	n/a	n/a
32	TCF12	chr4:103561784-103562507	SK-N-SH	brain:	n/a	n/a
33	TCF12	chr4:103564169-103564807	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:103563235..103566538-chr4:103568648..103571526,3	K562	blood:
2	chr4:103557978..103560777-chr4:103747437..103749932,2	MCF-7	breast:
3	chr4:103577856..103580844-chr4:103747616..103749306,2	MCF-7	breast:
4	chr4:103558551..103561241-chr4:103562975..103564838,2	K562	blood:
5	chr4:103563235..103566538-chr4:103568648..103571526,3	K562	blood:
6	chr4:103567141..103568806-chr4:103583001..103584546,2	K562	blood:
7	chr4:103558334..103560805-chr4:103747066..103749138,2	K562	blood:
8	chr4:103574573..103577329-chr4:103746563..103748519,2	K562	blood:
9	chr4:103566516..103568311-chr4:103572025..103574131,2	MCF-7	breast:
10	chr4:103559305..103561876-chr4:103747638..103749966,2	K562	blood:
11	chr4:103566516..103568311-chr4:103572025..103574131,2	MCF-7	breast:
12	chr4:103558551..103561241-chr4:103562975..103564838,2	K562	blood:

Variant related genes	Relation type
MANBA	TF binding region
ENSG00000241981	TF binding region
ENSG00000109332	chromatin interactions
ENSG00000246560	chromatin interactions
ENSG00000241981	chromatin interactions

Extended variants
information (count: 867 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:867 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs909349	chr4:103556316-103556317	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181936355	chr4:103556344-103556345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11436517	chr4:103556367-103556368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397769668	chr4:103556368-103556369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548849858	chr4:103556372-103556373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567238768	chr4:103556392-103556393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528243850	chr4:103556408-103556409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546394306	chr4:103556457-103556458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184384289	chr4:103556458-103556459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4586937	chr4:103556462-103556463	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs557064223	chr4:103556463-103556464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568737800	chr4:103556475-103556476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576480359	chr4:103556479-103556480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139732061	chr4:103556520-103556521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190059804	chr4:103556527-103556528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145288991	chr4:103556543-103556544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574405863	chr4:103556595-103556596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541589990	chr4:103556615-103556616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371925423	chr4:103556616-103556617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181166106	chr4:103556632-103556633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578158429	chr4:103556741-103556742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537514963	chr4:103556756-103556757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112495894	chr4:103556787-103556788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545153482	chr4:103556810-103556811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3733202	chr4:103556861-103556862	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs370111525	chr4:103556875-103556876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186253466	chr4:103556889-103556890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147623045	chr4:103556899-103556900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542635304	chr4:103556906-103556907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560803291	chr4:103556918-103556919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140829204	chr4:103556947-103556948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374993543	chr4:103556992-103556993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546912203	chr4:103556993-103556994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368641950	chr4:103557014-103557015	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149687835	chr4:103557043-103557044	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180816849	chr4:103557064-103557065	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2866413	chr4:103557077-103557078	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs113843904	chr4:103557078-103557079	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148402714	chr4:103557100-103557101	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143945849	chr4:103557132-103557133	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146881830	chr4:103557135-103557136	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185264268	chr4:103557137-103557138	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371368353	chr4:103557149-103557150	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536225833	chr4:103557159-103557160	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374622354	chr4:103557171-103557172	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548209583	chr4:103557180-103557181	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190715720	chr4:103557185-103557186	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4547797	chr4:103557192-103557193	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs183279136	chr4:103557204-103557205	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201856210	chr4:103557205-103557206	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103536200-103595400	Weak transcription	Colonic Mucosa	Colon
2	chr4:103536600-103562600	Weak transcription	Brain Germinal Matrix	brain
3	chr4:103536600-103595800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:103541800-103562400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:103541800-103571000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:103542400-103557200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:103542400-103560800	Weak transcription	Brain Substantia Nigra	brain
8	chr4:103542400-103562200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:103542400-103578800	Weak transcription	Psoas Muscle	Psoas
10	chr4:103542400-103594400	Weak transcription	K562	blood
11	chr4:103542400-103617400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:103542800-103557200	Weak transcription	Brain Angular Gyrus	brain
13	chr4:103542800-103563800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:103545200-103557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:103545200-103559800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:103545200-103592000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:103547000-103658200	Weak transcription	Small Intestine	intestine
18	chr4:103549000-103570400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:103549600-103558600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:103549600-103561600	Weak transcription	NHDF-Ad	bronchial
21	chr4:103549800-103561600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:103549800-103561600	Weak transcription	Osteobl	bone
23	chr4:103549800-103572000	Weak transcription	Placenta	Placenta
24	chr4:103550200-103582800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:103550400-103573000	Weak transcription	Fetal Kidney	kidney
26	chr4:103551000-103562600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:103551000-103563000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:103551000-103565000	Strong transcription	Primary B cells from cord blood	blood
29	chr4:103551000-103607600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr4:103551000-103607800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr4:103551600-103564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:103551800-103563200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:103552000-103561000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr4:103552000-103562800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:103552000-103563400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr4:103552400-103559200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:103552400-103560800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr4:103552400-103561200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr4:103552400-103561600	Weak transcription	NHEK	skin
40	chr4:103552400-103579600	Weak transcription	Fetal Heart	heart
41	chr4:103552800-103556400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:103552800-103557400	Strong transcription	Aorta	Aorta
43	chr4:103552800-103557400	Strong transcription	Colon Smooth Muscle	Colon
44	chr4:103552800-103558600	Strong transcription	Adipose Nuclei	Adipose
45	chr4:103552800-103558800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr4:103552800-103561000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:103552800-103561000	Strong transcription	Left Ventricle	heart
48	chr4:103552800-103561200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:103552800-103561200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:103552800-103561800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links