Variant report

Variant	esv1801295
Chromosome Location	chr4:100856441-100864204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:100860757-100860926	Medullo	brain:	n/a	n/a
2	CTCF	chr4:100860753-100860912	GM12878	blood:	n/a	n/a
3	CUX1	chr4:100863495-100863695	GM12878	blood:	n/a	n/a
4	E2F4	chr4:100856427-100856562	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr4:100864144-100864279	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr4:100859364-100860066	SK-N-SH	brain:	n/a	n/a
7	GATA2	chr4:100859261-100859765	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr4:100859544-100859777	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr4:100863916-100863975	SH-SY5Y	brain:	n/a	n/a
10	IRF1	chr4:100862623-100862813	K562	blood:	n/a	n/a
11	JUN	chr4:100857514-100857705	K562	blood:	n/a	n/a
12	KAP1	chr4:100856044-100856722	K562	blood:	n/a	n/a
13	KAP1	chr4:100862827-100863264	K562	blood:	n/a	n/a
14	KAP1	chr4:100856168-100856659	U2OS	brain:	n/a	n/a
15	MAX	chr4:100859425-100859607	NB4	blood:	n/a	chr4:100859492-100859502
16	MXI1	chr4:100859113-100860073	SK-N-SH	brain:	n/a	n/a
17	MYC	chr4:100858740-100858757	MCF-7	breast:	n/a	n/a
18	POLR2A	chr4:100858448-100858699	HepG2	liver:	n/a	n/a
19	POLR2A	chr4:100860371-100860452	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:100858493-100858712	K562	blood:	n/a	n/a
21	POLR2A	chr4:100856521-100856796	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:100856973-100857183	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:100859441-100859822	GM12878	blood:	n/a	n/a
24	POLR2A	chr4:100858667-100858891	K562	blood:	n/a	n/a
25	POLR2A	chr4:100858707-100858739	HepG2	liver:	n/a	n/a
26	POLR2A	chr4:100859528-100859558	HUVEC	blood vessel:	n/a	n/a
27	SETDB1	chr4:100855980-100856689	U2OS	brain:	n/a	n/a
28	STAT3	chr4:100863945-100864076	MCF10A-Er-Src	breast:	n/a	n/a
29	TBL1XR1	chr4:100863661-100863724	K562	blood:	n/a	n/a
30	ZNF143	chr4:100862593-100862928	K562	blood:	n/a	n/a
31	ZNF143	chr4:100862517-100862533	GM12878	blood:	n/a	n/a
32	ZNF384	chr4:100859346-100859546	GM12878	blood:	n/a	n/a
33	ZNF384	chr4:100859217-100859655	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100814171..100817089-chr4:100860805..100863486,3	K562	blood:
2	chr4:100830733..100833112-chr4:100854057..100856497,2	K562	blood:
3	chr4:100855576..100858012-chr4:100858356..100861147,2	MCF-7	breast:
4	chr4:100851997..100854259-chr4:100861223..100863842,2	K562	blood:
5	chr4:100855332..100857889-chr4:100866716..100868581,2	MCF-7	breast:
6	chr4:100856020..100858032-chr4:100868560..100871073,2	K562	blood:
7	chr4:100856368..100857910-chr4:100866642..100868433,2	K562	blood:
8	chr4:100855120..100857614-chr4:100862703..100864671,2	K562	blood:
9	chr4:100854185..100858103-chr4:100869055..100872773,4	MCF-7	breast:
10	chr4:100858344..100860711-chr4:100861423..100864092,3	K562	blood:
11	chr4:100849849..100851641-chr4:100861198..100863933,2	K562	blood:
12	chr4:100858344..100860711-chr4:100861423..100864092,3	K562	blood:
13	chr4:100855576..100858012-chr4:100858356..100861147,2	MCF-7	breast:
14	chr4:100855120..100857614-chr4:100862703..100864671,2	K562	blood:
15	chr4:100850059..100852947-chr4:100860774..100862284,2	MCF-7	breast:

No data

Variant related genes	Relation type
DNAJB14	TF binding region
ENSG00000109270	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000164031	chromatin interactions

Extended variants
information (count: 253 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7655944	chr4:100856441-100856442	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572918096	chr4:100856455-100856456	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs562524271	chr4:100856468-100856469	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs140606258	chr4:100856497-100856498	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs191323240	chr4:100856509-100856510	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs560976930	chr4:100856524-100856525	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs528298167	chr4:100856533-100856534	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs71614623	chr4:100856547-100856548	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183719710	chr4:100856553-100856554	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs375680161	chr4:100856559-100856560	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs550636409	chr4:100856594-100856595	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs575643747	chr4:100856618-100856619	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs543640791	chr4:100856654-100856655	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs568870106	chr4:100856672-100856673	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs80098943	chr4:100856724-100856725	Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs555254744	chr4:100856780-100856781	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs559536953	chr4:100856812-100856813	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs370960195	chr4:100856824-100856825	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs372998965	chr4:100856864-100856865	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs200511384	chr4:100856868-100856869	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs200115840	chr4:100856869-100856870	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs573426649	chr4:100856885-100856886	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs374553917	chr4:100856962-100856963	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs563390545	chr4:100856963-100856964	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs534423838	chr4:100856967-100856968	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs77179528	chr4:100856995-100856996	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs576955681	chr4:100857046-100857047	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs544287208	chr4:100857053-100857054	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs138173931	chr4:100857054-100857055	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs141230328	chr4:100857117-100857118	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs150158565	chr4:100857123-100857124	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs561251568	chr4:100857194-100857195	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs528354536	chr4:100857200-100857201	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs188777598	chr4:100857231-100857232	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs200764209	chr4:100857240-100857241	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs386677753	chr4:100857241-100857242	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs558390402	chr4:100857242-100857243	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs138935446	chr4:100857243-100857244	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs532294104	chr4:100857362-100857363	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs555823344	chr4:100857383-100857384	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs574145489	chr4:100857390-100857391	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs529710606	chr4:100857428-100857429	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs547851122	chr4:100857439-100857440	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs77858231	chr4:100857515-100857516	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs534209881	chr4:100857600-100857601	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs112868215	chr4:100857621-100857622	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs185318052	chr4:100857626-100857627	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs190079834	chr4:100857627-100857628	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs558764528	chr4:100857638-100857639	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs570705253	chr4:100857639-100857640	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	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
Autism	18414403	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
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:100816000-100867000	Weak transcription	Lung	lung
3	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:100820000-100866200	Weak transcription	Fetal Heart	heart
5	chr4:100824000-100865800	Weak transcription	Psoas Muscle	Psoas
6	chr4:100824400-100866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:100828800-100866200	Weak transcription	Stomach Mucosa	stomach
8	chr4:100829200-100866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:100829600-100866200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:100836600-100856800	Weak transcription	Spleen	Spleen
11	chr4:100839200-100857400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:100840000-100862600	Weak transcription	K562	blood
13	chr4:100840200-100864600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:100840200-100865800	Weak transcription	Ovary	ovary
15	chr4:100840200-100866000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:100840200-100867000	Weak transcription	Gastric	stomach
17	chr4:100840400-100856800	Weak transcription	Thymus	Thymus
18	chr4:100840400-100864600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:100840400-100866800	Weak transcription	Aorta	Aorta
20	chr4:100840400-100867000	Weak transcription	Esophagus	oesophagus
21	chr4:100840600-100862200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:100840800-100858200	Weak transcription	Fetal Stomach	stomach
23	chr4:100847800-100864600	Weak transcription	Hela-S3	cervix
24	chr4:100847800-100866200	Weak transcription	HSMMtube	muscle
25	chr4:100848400-100856600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:100848400-100866200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:100849600-100864800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:100850400-100864800	Weak transcription	HUVEC	blood vessel
29	chr4:100852000-100865400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:100852200-100866000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:100852400-100859000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:100852400-100863400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:100853200-100859800	ZNF genes & repeats	GM12878-XiMat	blood
34	chr4:100854800-100857000	ZNF genes & repeats	Fetal Lung	lung
35	chr4:100854800-100857200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:100855000-100857600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:100855200-100857000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:100855200-100857000	ZNF genes & repeats	Colon Smooth Muscle	Colon
39	chr4:100855200-100858000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:100855400-100856800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
41	chr4:100855400-100861400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr4:100855600-100857200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:100855600-100857200	ZNF genes & repeats	Fetal Thymus	thymus
44	chr4:100855600-100857600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr4:100855600-100858200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:100855800-100864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:100855800-100866000	Weak transcription	Colonic Mucosa	Colon
48	chr4:100856000-100856800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr4:100856000-100856800	Weak transcription	Fetal Intestine Small	intestine
50	chr4:100856000-100857800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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