Variant report

Variant	esv13389
Chromosome Location	chr4:70025762-70049028
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	ARID3A	chr4:70036297-70036563	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:70047409-70047599	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:70045525-70045926	HepG2	liver:	n/a	n/a
4	ATF1	chr4:70044510-70044858	K562	blood:	n/a	n/a
5	ATF1	chr4:70033053-70033356	K562	blood:	n/a	n/a
6	ATF2	chr4:70032979-70033329	GM12878	blood:	n/a	n/a
7	ATF2	chr4:70033061-70033352	GM12878	blood:	n/a	n/a
8	BACH1	chr4:70036465-70036545	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr4:70033076-70033245	K562	blood:	n/a	n/a
10	BATF	chr4:70033033-70033336	GM12878	blood:	n/a	chr4:70033221-70033232
11	BHLHE40	chr4:70047447-70047661	HepG2	liver:	n/a	n/a
12	BHLHE40	chr4:70044628-70044869	K562	blood:	n/a	n/a
13	CBX3	chr4:70033108-70033324	K562	blood:	n/a	n/a
14	CBX3	chr4:70033000-70033366	K562	blood:	n/a	n/a
15	CEBPB	chr4:70044638-70044861	K562	blood:	n/a	n/a
16	CEBPB	chr4:70046596-70046924	HepG2	liver:	n/a	chr4:70046754-70046765 chr4:70046753-70046764
17	CEBPB	chr4:70045536-70045885	HepG2	liver:	n/a	n/a
18	CEBPB	chr4:70044569-70044904	K562	blood:	n/a	n/a
19	CEBPB	chr4:70045638-70045779	HepG2	liver:	n/a	n/a
20	CEBPB	chr4:70047441-70047516	HepG2	liver:	n/a	n/a
21	CEBPD	chr4:70044512-70044940	K562	blood:	n/a	n/a
22	CEBPD	chr4:70045604-70045791	HepG2	liver:	n/a	n/a
23	CREB1	chr4:70045635-70045816	HepG2	liver:	n/a	n/a
24	CREB1	chr4:70033107-70033379	GM12878	blood:	n/a	n/a
25	CREB1	chr4:70033137-70033332	GM12878	blood:	n/a	n/a
26	CTCF	chr4:70036343-70036508	GM19240	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
27	CTCF	chr4:70036298-70036558	GM10266	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
28	CTCF	chr4:70036229-70036647	SK-N-SH	brain:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
29	CTCF	chr4:70036283-70036515	A549	lung:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
30	CTCF	chr4:70036313-70036547	SK-N-SH_RA	brain:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
31	CTCF	chr4:70036380-70036530	AG09309	skin:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
32	CTCF	chr4:70036360-70036510	GM12867	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
33	CTCF	chr4:70036300-70036450	NHDF-neo	bronchial:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
34	CTCF	chr4:70036340-70036490	HMEC	breast:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
35	CTCF	chr4:70036320-70036470	WI-38	lung:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
36	CTCF	chr4:70036260-70036410	HEK293	kidney:	n/a	n/a
37	CTCF	chr4:70036282-70036536	K562	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
38	CTCF	chr4:70036295-70036568	GM13977	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
39	CTCF	chr4:70036260-70036410	GM12873	blood:	n/a	n/a
40	CTCF	chr4:70036360-70036510	HRE	kidney:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
41	CTCF	chr4:70036200-70036572	A549	lung:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
42	CTCF	chr4:70036360-70036510	GM12874	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
43	CTCF	chr4:70036320-70036470	AG04450	lung:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
44	CTCF	chr4:70036400-70036550	SK-N-SH_RA	brain:	n/a	chr4:70036404-70036422
45	CTCF	chr4:70036100-70036250	RPTEC	kidney:	n/a	n/a
46	CTCF	chr4:70036360-70036510	K562	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
47	CTCF	chr4:70036340-70036490	GM06990	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
48	CTCF	chr4:70036360-70036510	GM12878	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
49	CTCF	chr4:70036300-70036450	MCF-7	breast:	n/a	chr4:70036404-70036422 chr4:70036399-70036420
50	CTCF	chr4:70036340-70036490	GM12865	blood:	n/a	chr4:70036404-70036422 chr4:70036399-70036420

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:70024955..70027798-chr4:70029828..70032326,2	K562	blood:
2	chr4:70024955..70027798-chr4:70029828..70032326,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B28-1	chr4:70047378-70048090	NONHSAT096756
2	lnc-UGT2B28-1	chr4:70047818-70048090	ENSG00000250696.1

Variant related genes	Relation type
ENSG00000196472	TF binding region
ENSG00000250696	TF binding region

Extended variants
information (count: 1235 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1235 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113793328	chr4:70025773-70025774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371895581	chr4:70025781-70025782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74504878	chr4:70025832-70025833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575473402	chr4:70025845-70025846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544225637	chr4:70025877-70025878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375879618	chr4:70025886-70025887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184601714	chr4:70025889-70025890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563928455	chr4:70025913-70025914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189341853	chr4:70025935-70025936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369952485	chr4:70025974-70025975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145227299	chr4:70025975-70025976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559834991	chr4:70025977-70025978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149143238	chr4:70025985-70025986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142259571	chr4:70025993-70025994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113582790	chr4:70026065-70026066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191125333	chr4:70026073-70026074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551306218	chr4:70026121-70026122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571011800	chr4:70026128-70026129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151242392	chr4:70026150-70026151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553470967	chr4:70026156-70026157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573271149	chr4:70026175-70026176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535603118	chr4:70026237-70026238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555728627	chr4:70026239-70026240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537960831	chr4:70026299-70026300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183770661	chr4:70026322-70026323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140736568	chr4:70026336-70026337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145891704	chr4:70026389-70026390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540051352	chr4:70026391-70026392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550065673	chr4:70026405-70026406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138450326	chr4:70026422-70026423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141324582	chr4:70026444-70026445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150325905	chr4:70026446-70026447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562466623	chr4:70026534-70026535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531212447	chr4:70026535-70026536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189571321	chr4:70026547-70026548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181519208	chr4:70026550-70026551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186695467	chr4:70026563-70026564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547193538	chr4:70026581-70026582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567000385	chr4:70026590-70026591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535933642	chr4:70026592-70026593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190099092	chr4:70026594-70026595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575546173	chr4:70026596-70026597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548615006	chr4:70026602-70026603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75069985	chr4:70026615-70026616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557593941	chr4:70026618-70026619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568406660	chr4:70026629-70026630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540186010	chr4:70026637-70026638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553544318	chr4:70026652-70026653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181664600	chr4:70026694-70026695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542662297	chr4:70026726-70026727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:70019400-70031200	Weak transcription	HepG2	liver
2	chr4:70025800-70026200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:70030600-70031400	Enhancers	Rectal Smooth Muscle	rectum
4	chr4:70031200-70031400	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr4:70031200-70032600	Enhancers	HepG2	liver
6	chr4:70031400-70032600	Enhancers	Fetal Intestine Large	intestine
7	chr4:70031600-70031800	Enhancers	Liver	Liver
8	chr4:70031800-70035400	Active TSS	Liver	Liver
9	chr4:70032200-70032600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:70032600-70035400	Weak transcription	HepG2	liver
11	chr4:70035000-70035200	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr4:70035200-70043600	Weak transcription	Fetal Intestine Small	intestine
13	chr4:70035400-70035800	Flanking Active TSS	Liver	Liver
14	chr4:70035400-70036400	Enhancers	HepG2	liver
15	chr4:70035800-70038200	Enhancers	Liver	Liver
16	chr4:70038200-70038600	Weak transcription	Liver	Liver
17	chr4:70038600-70038800	Enhancers	Liver	Liver
18	chr4:70038800-70041000	Weak transcription	Liver	Liver
19	chr4:70041000-70042000	Strong transcription	Liver	Liver
20	chr4:70042000-70044400	Weak transcription	Liver	Liver
21	chr4:70043600-70043800	Enhancers	Fetal Intestine Large	intestine
22	chr4:70043600-70044800	Enhancers	Fetal Intestine Small	intestine
23	chr4:70043600-70045600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:70043800-70044800	Weak transcription	Fetal Intestine Large	intestine
25	chr4:70044000-70044600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:70044200-70044400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:70044400-70044600	Enhancers	Liver	Liver
28	chr4:70044400-70045000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:70044400-70045400	Enhancers	Stomach Mucosa	stomach
30	chr4:70044600-70045000	Flanking Active TSS	Liver	Liver
31	chr4:70044800-70045000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:70044800-70045200	Enhancers	Primary B cells from peripheral blood	blood
33	chr4:70044800-70045400	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr4:70044800-70045600	Enhancers	Fetal Intestine Large	intestine
35	chr4:70045000-70045200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:70045000-70045200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:70045000-70045600	Enhancers	Duodenum Mucosa	Duodenum
38	chr4:70045000-70045600	Enhancers	HepG2	liver
39	chr4:70045000-70045800	Enhancers	Primary hematopoietic stem cells	blood
40	chr4:70045000-70046200	Enhancers	Liver	Liver
41	chr4:70045200-70046200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:70045200-70047400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:70045400-70045600	Enhancers	Fetal Intestine Small	intestine
44	chr4:70045600-70046600	Weak transcription	HepG2	liver
45	chr4:70046200-70047400	Weak transcription	Liver	Liver
46	chr4:70046600-70046800	Enhancers	HepG2	liver
47	chr4:70046800-70047400	Weak transcription	HepG2	liver
48	chr4:70047200-70048000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr4:70047400-70047600	Enhancers	Liver	Liver
50	chr4:70047400-70047600	Enhancers	HepG2	liver

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