Variant report

Variant	esv2763366
Chromosome Location	chr4:69592847-69661427
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	chr4:69610615-69611033	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:69637663-69637849	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:69598264-69599618	HepG2	liver:	n/a	n/a
4	ATF3	chr4:69598654-69599134	A549	lung:	n/a	n/a
5	ATF3	chr4:69610677-69611573	A549	lung:	n/a	n/a
6	BCL3	chr4:69598340-69599260	A549	lung:	n/a	n/a
7	BCL3	chr4:69610392-69610856	A549	lung:	n/a	n/a
8	BCL3	chr4:69598633-69599290	A549	lung:	n/a	n/a
9	BCL3	chr4:69610467-69611680	A549	lung:	n/a	n/a
10	BHLHE40	chr4:69600030-69600161	GM12878	blood:	n/a	n/a
11	BHLHE40	chr4:69598846-69599320	HepG2	liver:	n/a	n/a
12	BHLHE40	chr4:69598659-69598741	GM12878	blood:	n/a	n/a
13	BHLHE40	chr4:69598948-69599230	HepG2	liver:	n/a	n/a
14	CEBPB	chr4:69608451-69608832	HepG2	liver:	n/a	chr4:69608679-69608690 chr4:69608707-69608720 chr4:69608709-69608718 chr4:69608707-69608720 chr4:69608707-69608720 chr4:69608709-69608718 chr4:69608707-69608718 chr4:69608708-69608719 chr4:69608756-69608769 chr4:69608680-69608689 chr4:69608709-69608718 chr4:69608709-69608718
15	CEBPB	chr4:69637609-69637853	HepG2	liver:	n/a	chr4:69637743-69637754
16	CEBPB	chr4:69598634-69599199	A549	lung:	n/a	n/a
17	CEBPB	chr4:69610635-69611552	A549	lung:	n/a	n/a
18	CEBPB	chr4:69608539-69608824	A549	lung:	n/a	chr4:69608679-69608690 chr4:69608707-69608720 chr4:69608709-69608718 chr4:69608707-69608720 chr4:69608707-69608720 chr4:69608709-69608718 chr4:69608707-69608718 chr4:69608708-69608719 chr4:69608756-69608769 chr4:69608680-69608689 chr4:69608709-69608718 chr4:69608709-69608718
19	CEBPB	chr4:69614116-69614449	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr4:69605784-69605991	HepG2	liver:	n/a	n/a
21	CEBPB	chr4:69598361-69599255	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:69614171-69614444	IMR90	lung:	n/a	n/a
23	CEBPB	chr4:69637597-69637887	HepG2	liver:	n/a	chr4:69637743-69637754
24	CEBPB	chr4:69608567-69608819	Hela-S3	cervix:	n/a	chr4:69608679-69608690 chr4:69608707-69608720 chr4:69608709-69608718 chr4:69608707-69608720 chr4:69608707-69608720 chr4:69608709-69608718 chr4:69608707-69608718 chr4:69608708-69608719 chr4:69608756-69608769 chr4:69608680-69608689 chr4:69608709-69608718 chr4:69608709-69608718
25	CEBPB	chr4:69608542-69608820	IMR90	lung:	n/a	chr4:69608679-69608690 chr4:69608707-69608720 chr4:69608709-69608718 chr4:69608707-69608720 chr4:69608707-69608720 chr4:69608709-69608718 chr4:69608707-69608718 chr4:69608708-69608719 chr4:69608756-69608769 chr4:69608680-69608689 chr4:69608709-69608718 chr4:69608709-69608718
26	CEBPB	chr4:69655534-69655732	HepG2	liver:	n/a	chr4:69655582-69655593 chr4:69655582-69655591
27	CEBPB	chr4:69610882-69611428	A549	lung:	n/a	n/a
28	CEBPB	chr4:69608520-69608748	H1-hESC	embryonic stem cell:	n/a	chr4:69608679-69608690 chr4:69608707-69608720 chr4:69608709-69608718 chr4:69608707-69608720 chr4:69608707-69608720 chr4:69608709-69608718 chr4:69608707-69608718 chr4:69608708-69608719 chr4:69608680-69608689 chr4:69608709-69608718 chr4:69608709-69608718
29	CEBPB	chr4:69598457-69598607	HepG2	liver:	n/a	n/a
30	CEBPB	chr4:69608546-69608828	K562	blood:	n/a	chr4:69608679-69608690 chr4:69608707-69608720 chr4:69608709-69608718 chr4:69608707-69608720 chr4:69608707-69608720 chr4:69608709-69608718 chr4:69608707-69608718 chr4:69608708-69608719 chr4:69608756-69608769 chr4:69608680-69608689 chr4:69608709-69608718 chr4:69608709-69608718
31	CEBPB	chr4:69610997-69611391	A549	lung:	n/a	n/a
32	CEBPB	chr4:69643053-69643196	HepG2	liver:	n/a	chr4:69643169-69643180 chr4:69643170-69643181 chr4:69643169-69643182 chr4:69643169-69643182 chr4:69643169-69643182
33	CEBPB	chr4:69598849-69599129	HepG2	liver:	n/a	n/a
34	CEBPB	chr4:69598696-69599275	HepG2	liver:	n/a	n/a
35	CEBPD	chr4:69598781-69599121	HepG2	liver:	n/a	n/a
36	CEBPD	chr4:69598864-69599218	HepG2	liver:	n/a	n/a
37	CHD1	chr4:69598586-69598674	GM12878	blood:	n/a	n/a
38	CHD2	chr4:69598571-69598707	GM12878	blood:	n/a	n/a
39	CTCF	chr4:69639499-69639605	GM10266	blood:	n/a	n/a
40	CTCF	chr4:69636620-69636770	HPF	lung:	n/a	n/a
41	CTCF	chr4:69626757-69626852	GM20000	blood:	n/a	n/a
42	CTCF	chr4:69639965-69640014	GM13976	blood:	n/a	n/a
43	CTCF	chr4:69645878-69645948	ProgFib	skin:	n/a	n/a
44	CTCF	chr4:69660410-69660458	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr4:69639520-69639670	GM06990	blood:	n/a	n/a
46	CTCF	chr4:69658451-69658531	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr4:69627300-69627450	GM12866	blood:	n/a	n/a
48	CTCF	chr4:69625280-69625430	GM12871	blood:	n/a	n/a
49	CTCF	chr4:69638025-69638080	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr4:69601000-69601150	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69627049..69629916-chr4:69637911..69640559,2	K562	blood:
2	chr4:69627049..69629916-chr4:69637911..69640559,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B15-1	chr4:69616420-69616639	XLOC_003973
2	lnc-UGT2B15-1	chr4:69616420-69616639	XLOC_003973
3	lnc-UGT2B15-1	chr4:69610451-69610823	XLOC_003973
4	lnc-UGT2B15-1	chr4:69601916-69601926	XLOC_003973
5	lnc-UGT2B15-1	chr4:69610363-69610823	XLOC_003973
6	lnc-UGT2B15-1	chr4:69613396-69613521	XLOC_003973

Variant related genes	Relation type
ENSG00000250376	TF binding region
PALLD	miRNA target sites
PAK4	miRNA target sites

Extended variants
information (count: 2082 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2082 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs293418	chr4:69592847-69592848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141137741	chr4:69592858-69592859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs293417	chr4:69592875-69592876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553651407	chr4:69592891-69592892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147980653	chr4:69592895-69592896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529956476	chr4:69592926-69592927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535875621	chr4:69592929-69592930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373882851	chr4:69592965-69592966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532020156	chr4:69593000-69593001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183136624	chr4:69593004-69593005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72846825	chr4:69593008-69593009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577785802	chr4:69593010-69593011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540131060	chr4:69593011-69593012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs293416	chr4:69593020-69593021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186393808	chr4:69593036-69593037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs293415	chr4:69593060-69593061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115582298	chr4:69593064-69593065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375088746	chr4:69593076-69593077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527277867	chr4:69593086-69593087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551514143	chr4:69593097-69593098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369265316	chr4:69593102-69593103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192477219	chr4:69593103-69593104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs293414	chr4:69593108-69593109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs182569121	chr4:69593138-69593139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140898422	chr4:69593167-69593168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs293413	chr4:69593180-69593181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555296992	chr4:69593199-69593200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs293412	chr4:69593216-69593217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187887197	chr4:69593222-69593223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs55917665	chr4:69593272-69593273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs117751083	chr4:69593281-69593282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374996474	chr4:69593339-69593340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538726013	chr4:69593354-69593355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552868163	chr4:69593362-69593363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553777229	chr4:69593398-69593399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6835253	chr4:69593443-69593444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542949690	chr4:69593474-69593475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115437679	chr4:69593507-69593508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531354209	chr4:69593511-69593512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188377	chr4:69593517-69593518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565024037	chr4:69593541-69593542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533352588	chr4:69593551-69593552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138690620	chr4:69593559-69593560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376426666	chr4:69593590-69593591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115054827	chr4:69593613-69593614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4535391	chr4:69593628-69593629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549281718	chr4:69593680-69593681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56316919	chr4:69593706-69593707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537879265	chr4:69593712-69593713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557957564	chr4:69593725-69593726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69590600-69596200	Weak transcription	Pancreas	Pancrea
2	chr4:69590800-69601000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:69591000-69596200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:69596000-69598000	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr4:69596200-69596600	Enhancers	Pancreas	Pancrea
6	chr4:69596200-69596800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:69596200-69599800	Enhancers	HepG2	liver
8	chr4:69596600-69600800	Weak transcription	Pancreas	Pancrea
9	chr4:69597400-69598000	Enhancers	Fetal Intestine Large	intestine
10	chr4:69597800-69598200	Enhancers	Liver	Liver
11	chr4:69598000-69598400	Weak transcription	Fetal Intestine Small	intestine
12	chr4:69598000-69599600	Weak transcription	Fetal Intestine Large	intestine
13	chr4:69598200-69598400	Enhancers	A549	lung
14	chr4:69598200-69598800	Flanking Active TSS	Liver	Liver
15	chr4:69598400-69598600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr4:69598400-69598800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:69598400-69598800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr4:69598400-69599000	Active TSS	A549	lung
19	chr4:69598400-69599200	Enhancers	Fetal Intestine Small	intestine
20	chr4:69598600-69599000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr4:69598600-69599200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:69598600-69599200	Enhancers	Fetal Heart	heart
23	chr4:69598600-69599600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:69598800-69599000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:69598800-69599000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:69598800-69599000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr4:69598800-69599200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:69598800-69599200	Enhancers	Liver	Liver
29	chr4:69598800-69599200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr4:69599000-69599800	Enhancers	Fetal Kidney	kidney
31	chr4:69599000-69600000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:69599000-69600000	Active TSS	Duodenum Mucosa	Duodenum
33	chr4:69599000-69600200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:69599000-69600200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr4:69599000-69600600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr4:69599000-69601000	Enhancers	A549	lung
37	chr4:69599000-69603000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr4:69599200-69599600	Flanking Active TSS	Liver	Liver
39	chr4:69599200-69600000	Weak transcription	Fetal Intestine Small	intestine
40	chr4:69599200-69602800	Enhancers	Stomach Mucosa	stomach
41	chr4:69599600-69599800	Enhancers	Liver	Liver
42	chr4:69599600-69600600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:69599600-69600800	Active TSS	Fetal Intestine Large	intestine
44	chr4:69599800-69600200	Flanking Active TSS	Fetal Kidney	kidney
45	chr4:69599800-69600400	Flanking Active TSS	Liver	Liver
46	chr4:69599800-69600800	Flanking Active TSS	HepG2	liver
47	chr4:69599800-69601200	Active TSS	Fetal Stomach	stomach
48	chr4:69600000-69600400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr4:69600000-69600600	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr4:69600000-69602800	Enhancers	Fetal Intestine Small	intestine

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