Variant report

Variant	esv2762156
Chromosome Location	chr1:77471731-77477794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr1:77473150-77473195	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:77476654-77476829	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:77472270-77472407	MCF10A-Er-Src	breast:	n/a	n/a
4	WRNIP1	chr1:77472585-77472693	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:77477593-77477643	PANC-1	pancreas:	n/a
2	chr1:77477593-77477643	NHBE	bronchial:	n/a
3	chr1:77477593-77477643	ECC-1	luminal epithelium:	n/a
4	chr1:77477593-77477643	AG09319	gingival:	n/a
5	chr1:77477593-77477643	PrEC	prostate:	n/a
6	chr1:77477593-77477643	AG04450	lung:	fetal
7	chr1:77477593-77477643	GM19239	blood:	n/a
8	chr1:77477593-77477643	NB4	blood:	n/a
9	chr1:77477593-77477643	CMK	blood:	n/a
10	chr1:77477593-77477643	Hela-S3	cervix:	n/a
11	chr1:77477593-77477643	GM12878	blood:	n/a
12	chr1:77477593-77477643	GM06990	blood:	n/a
13	chr1:77477593-77477643	HCT-116	colon:	n/a
14	chr1:77477593-77477643	MCF10A-Er-Src	breast:	n/a
15	chr1:77477593-77477643	Hepatocyte	liver:	n/a
16	chr1:77477593-77477643	RPTEC	kidney:	n/a
17	chr1:77477593-77477643	ovcar-3	ovarian:	n/a
18	chr1:77477593-77477643	K562	blood:	n/a
19	chr1:77477593-77477643	HL-60	blood:	n/a
20	chr1:77477593-77477643	HIPEpiC	eye:	n/a
21	chr1:77477593-77477643	NT2-D1	testis:	n/a
22	chr1:77477593-77477643	H1-hESC	embryonic stem cell:	embryo
23	chr1:77477593-77477643	SAEC	small airway:	n/a
24	chr1:77477593-77477643	HCM	heart:	n/a
25	chr1:77477593-77477643	SK-N-SH_RA	brain:	n/a
26	chr1:77477593-77477643	AG10803	skin:	n/a
27	chr1:77477593-77477643	SKMC	muscle:	n/a
28	chr1:77477593-77477643	HEK293	kidney:	embryo
29	chr1:77477593-77477643	HRE	kidney:	n/a
30	chr1:77477593-77477643	HRPEpiC	eye:	n/a
31	chr1:77477593-77477643	Jurkat	blood:	n/a
32	chr1:77477593-77477643	IMR90	lung:	fetal
33	chr1:77477593-77477643	LNCaP	prostate:	n/a
34	chr1:77477593-77477643	HUVEC	blood vessel:	n/a
35	chr1:77477593-77477643	NHDF-neo	bronchial:	n/a
36	chr1:77477593-77477643	GM12891	blood:	n/a
37	chr1:77477593-77477643	HCPEpiC	choroid plexus:	n/a
38	chr1:77477593-77477643	Caco-2	colon:	n/a
39	chr1:77477593-77477643	HRCEpiC	kidney:	n/a
40	chr1:77477593-77477643	AG09309	skin:	n/a
41	chr1:77477593-77477643	AG04449	skin:	fetal
42	chr1:77477593-77477643	A549	lung:	n/a
43	chr1:77477593-77477643	HCF	heart:	n/a
44	chr1:77477593-77477643	PFSK-1	brain:	n/a
45	chr1:77477593-77477643	AoSMC	blood vessel:	n/a
46	chr1:77477593-77477643	T-47D	breast:	n/a
47	chr1:77477593-77477643	GM12892	blood:	n/a
48	chr1:77477593-77477643	BE2_C	brain:	n/a
49	chr1:77477593-77477643	HAEpiC	amniotic membrane:	n/a
50	chr1:77477593-77477643	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77469704..77471590-chr1:77474727..77477300,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221720	TF binding region
ENSG00000221720	CpG island

Extended variants
information (count: 225 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6603933	chr1:77471731-77471732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534571577	chr1:77471778-77471779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386632605	chr1:77471820-77471821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34812424	chr1:77471821-77471822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181247400	chr1:77471822-77471823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539833105	chr1:77471827-77471828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs397754847	chr1:77471829-77471830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557961735	chr1:77471830-77471831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368901655	chr1:77471867-77471868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554049227	chr1:77471938-77471939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183953870	chr1:77471956-77471957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55707604	chr1:77471958-77471959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111563127	chr1:77471964-77471965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188282495	chr1:77471985-77471986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180689748	chr1:77472001-77472002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112335409	chr1:77472027-77472028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71075723	chr1:77472029-77472030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559999004	chr1:77472058-77472059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144672941	chr1:77472068-77472069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12068473	chr1:77472134-77472135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545026095	chr1:77472144-77472145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563232195	chr1:77472155-77472156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148597351	chr1:77472156-77472157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12132112	chr1:77472162-77472163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535476179	chr1:77472190-77472191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7544535	chr1:77472200-77472201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139908200	chr1:77472283-77472284	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs575327084	chr1:77472340-77472341	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs546540564	chr1:77472358-77472359	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs144804007	chr1:77472382-77472383	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs539447791	chr1:77472383-77472384	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs543996687	chr1:77472386-77472387	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs551782641	chr1:77472393-77472394	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs570151124	chr1:77472426-77472427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537507456	chr1:77472450-77472451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs373666720	chr1:77472462-77472463	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557853051	chr1:77472548-77472549	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186460295	chr1:77472551-77472552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs577914944	chr1:77472555-77472556	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs80232210	chr1:77472563-77472564	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553377823	chr1:77472690-77472691	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs59726610	chr1:77472716-77472717	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs369273592	chr1:77472780-77472781	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532887844	chr1:77472807-77472808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190890392	chr1:77472907-77472908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181798883	chr1:77472908-77472909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574917319	chr1:77472918-77472919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542270935	chr1:77472986-77472987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114931747	chr1:77472990-77472991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528263289	chr1:77472996-77472997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Ewing''s sarcoma	17952124	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77456800-77472400	Weak transcription	Aorta	Aorta
2	chr1:77460400-77476200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:77462000-77473600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:77465200-77480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:77465200-77483600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:77465200-77484200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:77465200-77484200	Weak transcription	NHEK	skin
8	chr1:77471600-77476400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:77471600-77484200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:77472400-77472800	ZNF genes & repeats	Aorta	Aorta
11	chr1:77472600-77472800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:77472800-77487600	Weak transcription	Aorta	Aorta
13	chr1:77473600-77475400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:77475400-77486000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:77476200-77476800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:77476200-77477200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:77476200-77477200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:77476400-77477000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:77476400-77477000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:77476400-77477200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:77476400-77477200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:77476400-77477200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:77476400-77477200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:77476400-77478200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:77476600-77476800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:77476600-77476800	Enhancers	Brain Germinal Matrix	brain
27	chr1:77476600-77476800	Enhancers	Fetal Brain Male	brain
28	chr1:77476600-77477000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:77476600-77477000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr1:77476600-77477000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:77476600-77477000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:77476600-77477200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr1:77476600-77477200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:77476600-77477800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:77476800-77477000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:77476800-77477400	Weak transcription	Fetal Brain Male	brain
37	chr1:77476800-77478000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:77476800-77484200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:77477000-77478000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:77477000-77478600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:77477000-77484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:77477000-77484600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:77477000-77491400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:77477200-77477600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:77477200-77478000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:77477200-77481200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:77477200-77481200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:77477200-77483800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:77477200-77484000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:77477400-77478400	Enhancers	Fetal Brain Male	brain

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