Variant report

Variant	esv1840142
Chromosome Location	chr1:69692232-69728843
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	ATF2	chr1:69709909-69710298	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr1:69709851-69710227	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:69721786-69721971	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr1:69709949-69710216	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr1:69709968-69710212	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr1:69694455-69694640	HepG2	liver:	n/a	chr1:69694549-69694562
7	CEBPB	chr1:69696980-69697241	IMR90	lung:	n/a	chr1:69697136-69697147 chr1:69697138-69697147 chr1:69697125-69697133 chr1:69697137-69697148
8	CEBPB	chr1:69697004-69697264	A549	lung:	n/a	chr1:69697136-69697147 chr1:69697138-69697147 chr1:69697125-69697133 chr1:69697137-69697148
9	CEBPB	chr1:69696775-69697271	HepG2	liver:	n/a	chr1:69697136-69697147 chr1:69697138-69697147 chr1:69696890-69696903 chr1:69697125-69697133 chr1:69697137-69697148
10	CTCF	chr1:69725960-69726110	HCM	heart:	n/a	n/a
11	CTCF	chr1:69725935-69725983	LNCaP	prostate:	n/a	n/a
12	CTCF	chr1:69697230-69697282	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr1:69725880-69726030	HEK293	kidney:	n/a	n/a
14	CTCF	chr1:69720361-69720448	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr1:69725920-69726070	BJ	skin:	n/a	n/a
16	CTCF	chr1:69697495-69697535	ProgFib	skin:	n/a	n/a
17	CTCF	chr1:69725820-69725970	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr1:69725840-69725990	NHEK	skin:	n/a	n/a
19	CTCF	chr1:69725860-69726010	NHEK	skin:	n/a	n/a
20	CTCF	chr1:69725934-69726038	ProgFib	skin:	n/a	n/a
21	CTCF	chr1:69725840-69725990	HEK293	kidney:	n/a	n/a
22	CTCF	chr1:69725880-69726030	HCFaa	heart:	n/a	n/a
23	CTCF	chr1:69725960-69726110	BJ	skin:	n/a	n/a
24	CTCF	chr1:69725860-69726010	NHDF-neo	bronchial:	n/a	n/a
25	EP300	chr1:69709930-69710288	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOS	chr1:69718410-69718750	MCF10A-Er-Src	breast:	n/a	chr1:69718582-69718590 chr1:69718580-69718592
27	FOS	chr1:69718398-69718743	MCF10A-Er-Src	breast:	n/a	chr1:69718582-69718590 chr1:69718580-69718592 chr1:69718408-69718420
28	HDAC2	chr1:69709935-69710210	H1-hESC	embryonic stem cell:	n/a	n/a
29	HDAC2	chr1:69709801-69710331	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUND	chr1:69709976-69710260	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr1:69710009-69710180	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAFF	chr1:69721828-69722028	K562	blood:	n/a	n/a
33	MAFK	chr1:69721871-69722015	IMR90	lung:	n/a	n/a
34	MAX	chr1:69711826-69712144	H1-hESC	embryonic stem cell:	n/a	chr1:69711982-69711991 chr1:69711986-69711995
35	MAX	chr1:69709973-69710227	H1-hESC	embryonic stem cell:	n/a	n/a
36	NANOG	chr1:69709919-69710216	H1-hESC	embryonic stem cell:	n/a	n/a
37	NANOG	chr1:69709921-69710281	H1-hESC	embryonic stem cell:	n/a	n/a
38	NFYA	chr1:69697146-69697339	GM12878	blood:	n/a	n/a
39	NFYB	chr1:69724700-69724900	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:69724147-69724156	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr1:69700664-69700683	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr1:69711818-69712333	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr1:69724304-69725021	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr1:69712410-69712859	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr1:69717738-69717746	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr1:69726041-69726197	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr1:69699992-69700028	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr1:69712405-69712843	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr1:69727642-69727718	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr1:69724353-69725080	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:69691851..69693855-chr1:69696982..69699596,2	K562	blood:
2	chr1:69691851..69693855-chr1:69696982..69699596,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEPDC1-2	chr1:69714898-69715106	XLOC_000866
2	lnc-DEPDC1-2	chr1:69709055-69709279	XLOC_000866

Variant related genes	Relation type
ENSG00000235446	TF binding region
ZNF644	miRNA target sites

Extended variants
information (count: 669 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2248186	chr1:69692232-69692233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573164946	chr1:69692374-69692375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542103585	chr1:69692445-69692446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561966036	chr1:69692501-69692502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571959105	chr1:69692524-69692525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78034531	chr1:69692532-69692533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544409428	chr1:69692546-69692547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554171296	chr1:69692587-69692588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140796975	chr1:69692704-69692705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572365739	chr1:69692719-69692720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187636771	chr1:69692726-69692727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559680892	chr1:69692777-69692778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149691018	chr1:69692796-69692797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs66480921	chr1:69692806-69692807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376170029	chr1:69692816-69692817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75240347	chr1:69692818-69692819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549240629	chr1:69692840-69692841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569228231	chr1:69692857-69692858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563655503	chr1:69692896-69692897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530726498	chr1:69692925-69692926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531797667	chr1:69692961-69692962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551979498	chr1:69692983-69692984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571648201	chr1:69693027-69693028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534344855	chr1:69693106-69693107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs68072320	chr1:69693176-69693177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554315941	chr1:69693181-69693182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201130727	chr1:69693183-69693184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201726855	chr1:69693184-69693185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145584588	chr1:69693220-69693221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4265389	chr1:69693244-69693245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536051232	chr1:69693270-69693271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555665512	chr1:69693294-69693295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576164075	chr1:69693320-69693321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs137937550	chr1:69693339-69693340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200085573	chr1:69693341-69693342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141299975	chr1:69693378-69693379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192643254	chr1:69693429-69693430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201754848	chr1:69693467-69693468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544052759	chr1:69693539-69693540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557977279	chr1:69693542-69693543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147016374	chr1:69693608-69693609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151040490	chr1:69693617-69693618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115199930	chr1:69693658-69693659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559839304	chr1:69693670-69693671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532212192	chr1:69693671-69693672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541281354	chr1:69693706-69693707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2248308	chr1:69693755-69693756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs542252578	chr1:69693761-69693762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562820862	chr1:69693767-69693768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183592467	chr1:69693775-69693776	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69688400-69693600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:69691200-69693600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:69693600-69694000	Enhancers	Adipose Nuclei	Adipose
4	chr1:69693600-69694600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:69693800-69694000	Enhancers	Fetal Brain Male	brain
6	chr1:69694000-69695000	Weak transcription	Fetal Brain Male	brain
7	chr1:69694000-69697200	Weak transcription	Adipose Nuclei	Adipose
8	chr1:69694600-69696200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:69695000-69695400	Enhancers	Fetal Brain Male	brain
10	chr1:69695600-69696600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:69696000-69697000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:69696000-69697200	Enhancers	Liver	Liver
13	chr1:69696200-69696600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:69696200-69696800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:69696200-69696800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:69696200-69696800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:69696200-69696800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:69696200-69697200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:69696200-69697200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:69696600-69698800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:69696600-69699600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:69696800-69697200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:69696800-69699400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:69696800-69699600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:69696800-69699800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:69697000-69697200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:69697000-69699400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:69697200-69697400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:69697200-69697400	Enhancers	Adipose Nuclei	Adipose
30	chr1:69697200-69699200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:69697200-69699400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:69697400-69699600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:69698400-69698600	Enhancers	Brain Germinal Matrix	brain
34	chr1:69698400-69699600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:69698800-69700400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:69699200-69699400	Enhancers	Brain Germinal Matrix	brain
37	chr1:69699200-69700000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr1:69699200-69700200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr1:69699200-69700200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:69699200-69700400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:69699400-69700200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:69699400-69700600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:69699400-69700600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:69699600-69700200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:69699600-69700400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:69699600-69700400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:69699800-69700200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:69699800-69700200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:69699800-69700200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:69708200-69710800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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