Variant report

Variant	esv18835
Chromosome Location	chr4:102081201-102084993
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	ATF3	chr4:102082178-102082689	A549	lung:	n/a	n/a
2	ATF3	chr4:102082206-102082688	A549	lung:	n/a	n/a
3	BCL3	chr4:102082143-102082701	A549	lung:	n/a	n/a
4	BCL3	chr4:102081992-102082833	A549	lung:	n/a	chr4:102082071-102082080
5	CEBPB	chr4:102084961-102085576	HCT-116	colon:	n/a	n/a
6	CEBPB	chr4:102082274-102082701	A549	lung:	n/a	n/a
7	CEBPB	chr4:102082223-102082650	A549	lung:	n/a	n/a
8	CEBPB	chr4:102082067-102082757	A549	lung:	n/a	n/a
9	CEBPB	chr4:102081867-102083198	HCT-116	colon:	n/a	chr4:102082786-102082797
10	CEBPB	chr4:102082137-102083236	HCT-116	colon:	n/a	chr4:102082786-102082797
11	CEBPB	chr4:102084519-102085994	HCT-116	colon:	n/a	chr4:102085764-102085775
12	CREB1	chr4:102082282-102082553	A549	lung:	n/a	n/a
13	EP300	chr4:102082001-102082821	A549	lung:	n/a	chr4:102082072-102082081
14	EP300	chr4:102082502-102082800	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr4:102081767-102082921	A549	lung:	n/a	chr4:102082072-102082081
16	FOS	chr4:102082259-102082592	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr4:102082367-102082562	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr4:102082043-102082570	MCF10A-Er-Src	breast:	n/a	chr4:102082072-102082080 chr4:102082071-102082081 chr4:102082072-102082080 chr4:102082072-102082079 chr4:102082071-102082081
19	FOS	chr4:102082276-102082572	MCF10A-Er-Src	breast:	n/a	n/a
20	FOSL1	chr4:102081781-102083234	HCT-116	colon:	n/a	chr4:102082072-102082080 chr4:102082071-102082081 chr4:102082072-102082080 chr4:102082072-102082079 chr4:102082071-102082081
21	FOSL1	chr4:102081786-102082679	HCT-116	colon:	n/a	chr4:102082071-102082081 chr4:102082072-102082080 chr4:102082072-102082079 chr4:102082072-102082080 chr4:102082071-102082081
22	FOSL2	chr4:102081857-102082801	A549	lung:	n/a	chr4:102082072-102082080 chr4:102082071-102082081 chr4:102082072-102082080 chr4:102082072-102082079 chr4:102082071-102082081
23	FOSL2	chr4:102081953-102082232	A549	lung:	n/a	chr4:102082072-102082080 chr4:102082071-102082081 chr4:102082072-102082080 chr4:102082072-102082079 chr4:102082071-102082081
24	FOSL2	chr4:102082250-102082612	A549	lung:	n/a	n/a
25	FOXA1	chr4:102082262-102082465	T-47D	breast:	n/a	n/a
26	FOXA2	chr4:102082153-102082787	A549	lung:	n/a	n/a
27	FOXA2	chr4:102082263-102082721	A549	lung:	n/a	n/a
28	GABPA	chr4:102082201-102082661	A549	lung:	n/a	n/a
29	GABPA	chr4:102082277-102082605	A549	lung:	n/a	n/a
30	GATA3	chr4:102081797-102082970	A549	lung:	n/a	chr4:102082653-102082660
31	GATA3	chr4:102082016-102082763	A549	lung:	n/a	chr4:102082653-102082660
32	GATA3	chr4:102082236-102082694	MCF-7	breast:	n/a	chr4:102082653-102082660
33	GATA3	chr4:102082570-102082765	SH-SY5Y	brain:	n/a	chr4:102082653-102082660
34	GATA3	chr4:102082376-102082932	SK-N-SH	brain:	n/a	chr4:102082653-102082660
35	JUN	chr4:102084670-102084770	HepG2	liver:	n/a	n/a
36	JUND	chr4:102081879-102082714	HCT-116	colon:	n/a	chr4:102082072-102082080 chr4:102082071-102082081 chr4:102082072-102082080 chr4:102082072-102082079 chr4:102082071-102082081
37	JUND	chr4:102082225-102082655	A549	lung:	n/a	n/a
38	JUND	chr4:102081872-102083084	HCT-116	colon:	n/a	chr4:102082072-102082080 chr4:102082071-102082081 chr4:102082072-102082080 chr4:102082072-102082079 chr4:102082071-102082081
39	MAX	chr4:102082187-102082638	A549	lung:	n/a	n/a
40	MAX	chr4:102082091-102082718	A549	lung:	n/a	n/a
41	MYC	chr4:102082266-102082438	MCF10A-Er-Src	breast:	n/a	n/a
42	NR3C1	chr4:102082217-102082542	A549	lung:	n/a	n/a
43	NR3C1	chr4:102082243-102082621	A549	lung:	n/a	n/a
44	NR3C1	chr4:102082226-102082635	A549	lung:	n/a	n/a
45	NR3C1	chr4:102082154-102082640	A549	lung:	n/a	n/a
46	NR3C1	chr4:102082277-102082619	A549	lung:	n/a	n/a
47	NR3C1	chr4:102082242-102082595	A549	lung:	n/a	n/a
48	POLR2A	chr4:102081527-102082695	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr4:102082076-102082078	MCF-7	breast:	n/a	n/a
50	POLR2A	chr4:102083093-102083153	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:102072492..102076401-chr4:102080849..102083286,3	MCF-7	breast:

Variant related genes	Relation type
PPP3CA	TF binding region

Extended variants
information (count: 145 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565947314	chr4:102081204-102081205	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535520641	chr4:102081240-102081241	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539317988	chr4:102081262-102081263	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558053469	chr4:102081263-102081264	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs190832799	chr4:102081269-102081270	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs1880943	chr4:102081357-102081358	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182157072	chr4:102081379-102081380	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541011807	chr4:102081419-102081420	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs574621294	chr4:102081428-102081429	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs187118046	chr4:102081435-102081436	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs559808011	chr4:102081436-102081437	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs370156678	chr4:102081457-102081458	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs560254590	chr4:102081499-102081500	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2695216	chr4:102081500-102081501	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs35942226	chr4:102081507-102081508	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs59914033	chr4:102081512-102081513	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184478822	chr4:102081611-102081612	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs531934326	chr4:102081627-102081628	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs188418094	chr4:102081657-102081658	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs561741765	chr4:102081664-102081665	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs141789406	chr4:102081670-102081671	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs145991540	chr4:102081695-102081696	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs565511206	chr4:102081697-102081698	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs539420293	chr4:102081782-102081783	Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs555474828	chr4:102081817-102081818	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs193018091	chr4:102081820-102081821	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs569973491	chr4:102081845-102081846	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs536829785	chr4:102081947-102081948	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs555177831	chr4:102081983-102081984	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs2695217	chr4:102082033-102082034	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs535528161	chr4:102082055-102082056	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs17030831	chr4:102082056-102082057	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs2695218	chr4:102082145-102082146	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372906916	chr4:102082182-102082183	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs558167210	chr4:102082228-102082229	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs2659552	chr4:102082263-102082264	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs34484032	chr4:102082274-102082275	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs577633644	chr4:102082283-102082284	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs139936871	chr4:102082292-102082293	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs185645306	chr4:102082301-102082302	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs527426204	chr4:102082343-102082344	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs562228139	chr4:102082353-102082354	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs141611880	chr4:102082422-102082423	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs570357874	chr4:102082432-102082433	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs540721305	chr4:102082487-102082488	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs559399456	chr4:102082526-102082527	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs114888660	chr4:102082571-102082572	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs532781770	chr4:102082638-102082639	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs190569538	chr4:102082644-102082645	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs569600741	chr4:102082661-102082662	Weak transcription Strong transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Hirschsprung''s Disease	21712996	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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102062600-102090400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:102075400-102084200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr4:102078400-102093200	Weak transcription	HUVEC	blood vessel
4	chr4:102078400-102096600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:102078600-102088400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:102078600-102090200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:102078800-102082000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:102078800-102084000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:102078800-102084000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:102078800-102084000	Weak transcription	HMEC	breast
11	chr4:102078800-102096000	Weak transcription	Ovary	ovary
12	chr4:102079000-102088800	Weak transcription	Fetal Intestine Small	intestine
13	chr4:102079400-102113800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr4:102079600-102082000	Weak transcription	NHEK	skin
15	chr4:102079600-102088800	Weak transcription	Psoas Muscle	Psoas
16	chr4:102079800-102081400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:102079800-102081600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:102079800-102082800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:102079800-102087200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:102079800-102096400	Weak transcription	Adipose Nuclei	Adipose
21	chr4:102080000-102082200	Weak transcription	Brain Substantia Nigra	brain
22	chr4:102080000-102083000	Enhancers	Brain Cingulate Gyrus	brain
23	chr4:102080000-102084200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:102080000-102085200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:102080000-102085200	Weak transcription	Osteobl	bone
26	chr4:102080000-102092200	Weak transcription	NHDF-Ad	bronchial
27	chr4:102080000-102092600	Weak transcription	NH-A	brain
28	chr4:102080200-102085200	Weak transcription	HSMM	muscle
29	chr4:102080400-102081600	Weak transcription	Brain Anterior Caudate	brain
30	chr4:102080400-102081600	Enhancers	A549	lung
31	chr4:102080400-102084600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:102080400-102087400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:102080400-102088800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:102080600-102081400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:102080600-102082200	Weak transcription	Brain Angular Gyrus	brain
36	chr4:102080600-102082400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:102080600-102082600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:102080600-102093000	Weak transcription	NHLF	lung
39	chr4:102080600-102100600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:102080800-102082600	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:102081000-102090200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:102081200-102082600	Strong transcription	Primary B cells from cord blood	blood
43	chr4:102081400-102082800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr4:102081600-102081800	Flanking Active TSS	A549	lung
45	chr4:102081600-102083000	Enhancers	Brain Anterior Caudate	brain
46	chr4:102081800-102082800	Active TSS	A549	lung
47	chr4:102082000-102082800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:102082000-102082800	Enhancers	NHEK	skin
49	chr4:102082000-102083000	Enhancers	Fetal Brain Female	brain
50	chr4:102082000-102083400	Enhancers	Rectal Mucosa Donor 31	rectum

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