Variant report

Variant	esv2763382
Chromosome Location	chr4:98883311-98924910
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	BCL3	chr4:98906959-98907234	GM12878	blood:	n/a	n/a
2	BCL3	chr4:98905816-98906082	GM12878	blood:	n/a	n/a
3	BRCA1	chr4:98908240-98908390	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr4:98898912-98899245	HepG2	liver:	n/a	chr4:98899094-98899105
5	CEBPB	chr4:98910863-98911031	A549	lung:	n/a	n/a
6	CTCF	chr4:98905800-98905950	GM12871	blood:	n/a	n/a
7	CTCF	chr4:98905794-98906027	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr4:98908300-98908450	HUVEC	blood vessel:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
9	CTCF	chr4:98908275-98908483	GM12878	blood:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
10	CTCF	chr4:98908117-98908552	MCF-7	breast:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
11	CTCF	chr4:98908260-98908410	GM12870	blood:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
12	CTCF	chr4:98908211-98908543	K562	blood:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
13	CTCF	chr4:98908195-98908607	HCT-116	colon:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
14	CTCF	chr4:98908300-98908450	HCT-116	colon:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
15	CTCF	chr4:98908290-98908463	GM13977	blood:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
16	CTCF	chr4:98905820-98905970	NB4	blood:	n/a	n/a
17	CTCF	chr4:98908300-98908450	SAEC	small airway:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
18	CTCF	chr4:98905840-98905990	GM12864	blood:	n/a	n/a
19	CTCF	chr4:98905852-98905998	IMR90	lung:	n/a	n/a
20	CTCF	chr4:98905808-98905935	HepG2	liver:	n/a	n/a
21	CTCF	chr4:98905800-98905950	BE2_C	brain:	n/a	n/a
22	CTCF	chr4:98908280-98908430	AG09319	gingival:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
23	CTCF	chr4:98908260-98908410	HA-sp	spinal cord:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
24	CTCF	chr4:98905480-98905630	HEK293	kidney:	n/a	n/a
25	CTCF	chr4:98908323-98908418	Lung_OC	lung:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
26	CTCF	chr4:98905780-98905930	AG09319	gingival:	n/a	n/a
27	CTCF	chr4:98908305-98908371	ProgFib	skin:	n/a	n/a
28	CTCF	chr4:98908246-98908490	MCF-7	breast:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
29	CTCF	chr4:98908280-98908430	HVMF	connective:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
30	CTCF	chr4:98905780-98905930	GM12871	blood:	n/a	n/a
31	CTCF	chr4:98908260-98908410	GM12865	blood:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
32	CTCF	chr4:98908165-98908486	H1-hESC	embryonic stem cell:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
33	CTCF	chr4:98905780-98905930	BJ	skin:	n/a	n/a
34	CTCF	chr4:98905815-98905961	Medullo	brain:	n/a	n/a
35	CTCF	chr4:98905840-98905990	GM12875	blood:	n/a	n/a
36	CTCF	chr4:98908260-98908410	GM12873	blood:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
37	CTCF	chr4:98905800-98905950	HVMF	connective:	n/a	n/a
38	CTCF	chr4:98905783-98905994	K562	blood:	n/a	n/a
39	CTCF	chr4:98905760-98905910	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr4:98905811-98905974	LNCaP	prostate:	n/a	n/a
41	CTCF	chr4:98908281-98908438	HepG2	liver:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
42	CTCF	chr4:98908280-98908430	HCPEpiC	choroid plexus:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
43	CTCF	chr4:98908240-98908390	GM12867	blood:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
44	CTCF	chr4:98905864-98905955	A549	lung:	n/a	n/a
45	CTCF	chr4:98905820-98905970	HMEC	breast:	n/a	n/a
46	CTCF	chr4:98908070-98908710	HCT-116	colon:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
47	CTCF	chr4:98908238-98908418	A549	lung:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
48	CTCF	chr4:98908185-98908569	GM12878	blood:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
49	CTCF	chr4:98908300-98908450	SK-N-SH_RA	brain:	n/a	chr4:98908367-98908388 chr4:98908372-98908390
50	CTCF	chr4:98908312-98908459	GM10266	blood:	n/a	chr4:98908367-98908388 chr4:98908372-98908390

No.	Distal block	Cell Line	Cell type
1	chr4:98896668..98898608-chr4:98901811..98903490,2	K562	blood:
2	chr4:97404242..97405044-chr4:98905771..98906367,3	MCF-7	breast:
3	chr4:98896668..98898608-chr4:98901811..98903490,2	K562	blood:
4	chr4:98641928..98642827-chr4:98905748..98906362,2	MCF-7	breast:

Variant related genes	Relation type
STPG2	TF binding region

Extended variants
information (count: 365 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566559723	chr4:98883336-98883337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544826575	chr4:98883403-98883404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367883385	chr4:98883428-98883429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563390163	chr4:98883440-98883441	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574929916	chr4:98883462-98883463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80310774	chr4:98883483-98883484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112566246	chr4:98883496-98883497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551598432	chr4:98883511-98883512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528385957	chr4:98883522-98883523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189304725	chr4:98883544-98883545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17027076	chr4:98883547-98883548	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532324711	chr4:98883619-98883620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574457211	chr4:98883637-98883638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77265992	chr4:98883638-98883639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181221651	chr4:98883695-98883696	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116643752	chr4:98883769-98883770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558912267	chr4:98883772-98883773	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536712643	chr4:98883814-98883815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186241378	chr4:98883815-98883816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191486071	chr4:98883839-98883840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202056667	chr4:98883855-98883856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182894799	chr4:98883865-98883866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559201265	chr4:98883867-98883868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12650321	chr4:98883882-98883883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538421197	chr4:98883904-98883905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556808372	chr4:98883914-98883915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141121898	chr4:98883921-98883922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568847750	chr4:98883936-98883937	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542283162	chr4:98883945-98883946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186118007	chr4:98883970-98883971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191031026	chr4:98884005-98884006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74424478	chr4:98884010-98884011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146967263	chr4:98884031-98884032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565170708	chr4:98884049-98884050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137986353	chr4:98884055-98884056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149471159	chr4:98884061-98884062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112535037	chr4:98884068-98884069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562636330	chr4:98884095-98884096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530225017	chr4:98884108-98884109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548652661	chr4:98884110-98884111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143773489	chr4:98884137-98884138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs814149	chr4:98884185-98884186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552631258	chr4:98884230-98884231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143092963	chr4:98884234-98884235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146152996	chr4:98884241-98884242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556733936	chr4:98884269-98884270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568274596	chr4:98884308-98884309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113714666	chr4:98884311-98884312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546079190	chr4:98884312-98884313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564647078	chr4:98884315-98884316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98882800-98884600	Weak transcription	Pancreas	Pancrea
2	chr4:98883000-98884000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr4:98884000-98886000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:98884600-98884800	ZNF genes & repeats	Pancreas	Pancrea
5	chr4:98885200-98885600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:98886000-98886600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr4:98886400-98886800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:98890200-98890600	ZNF genes & repeats	Brain Anterior Caudate	brain
9	chr4:98894800-98895200	ZNF genes & repeats	Pancreas	Pancrea
10	chr4:98895000-98895200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:98895200-98895600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:98907600-98907800	Enhancers	Fetal Kidney	kidney
13	chr4:98908000-98908400	Enhancers	Brain Angular Gyrus	brain
14	chr4:98908000-98908400	Enhancers	Dnd41	blood
15	chr4:98909000-98909400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:98915800-98916800	Enhancers	HMEC	breast
17	chr4:98916000-98916600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:98916000-98916800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:98916800-98918400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:98922400-98923000	Active TSS	Pancreatic Islets	Pancreatic Islet

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