Variant report

Variant	esv1822630
Chromosome Location	chr2:78017869-78073924
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	BACH1	chr2:78056821-78057163	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:78043808-78043996	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:78029044-78029185	HepG2	liver:	n/a	chr2:78029126-78029139 chr2:78029127-78029138
4	CEBPB	chr2:78018338-78018524	HepG2	liver:	n/a	chr2:78018470-78018483 chr2:78018453-78018464
5	CTCF	chr2:78037650-78037693	GM10248	blood:	n/a	n/a
6	CTCF	chr2:78071343-78071412	GM13976	blood:	n/a	n/a
7	CTCF	chr2:78046932-78046967	GM20000	blood:	n/a	n/a
8	CTCF	chr2:78058640-78058790	RPTEC	kidney:	n/a	n/a
9	CTCF	chr2:78023640-78023790	Caco-2	colon:	n/a	n/a
10	CTCF	chr2:78056762-78056790	Fibrobl	skin:	n/a	n/a
11	CTCF	chr2:78035672-78035707	Pancreas_OC	pancreas:	n/a	n/a
12	CTCF	chr2:78023640-78023790	BE2_C	brain:	n/a	n/a
13	CTCF	chr2:78033617-78033669	Lung_OC	lung:	n/a	n/a
14	CTCF	chr2:78023560-78023710	BE2_C	brain:	n/a	n/a
15	E2F4	chr2:78024715-78025098	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr2:78017913-78017915	HepG2	liver:	n/a	n/a
17	EP300	chr2:78027511-78027934	SK-N-SH_RA	brain:	n/a	n/a
18	EP300	chr2:78027202-78027929	SK-N-SH	brain:	n/a	n/a
19	EP300	chr2:78027585-78027826	SK-N-SH_RA	brain:	n/a	n/a
20	FOS	chr2:78034997-78035233	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr2:78035048-78035255	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr2:78034937-78035262	MCF10A-Er-Src	breast:	n/a	n/a
23	FOXA1	chr2:78065506-78065889	HepG2	liver:	n/a	n/a
24	FOXA1	chr2:78065510-78065955	HepG2	liver:	n/a	n/a
25	FOXA1	chr2:78058162-78058571	HepG2	liver:	n/a	n/a
26	FOXA1	chr2:78065381-78065924	HepG2	liver:	n/a	n/a
27	FOXA1	chr2:78059125-78059339	T-47D	breast:	n/a	n/a
28	FOXA2	chr2:78058195-78058430	HepG2	liver:	n/a	n/a
29	FOXA2	chr2:78065315-78066106	HepG2	liver:	n/a	n/a
30	FOXA2	chr2:78065493-78065806	HepG2	liver:	n/a	n/a
31	GATA3	chr2:78047726-78047838	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr2:78031017-78031193	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr2:78031841-78032277	T-47D	breast:	n/a	n/a
34	GATA3	chr2:78031867-78032220	T-47D	breast:	n/a	n/a
35	GATA3	chr2:78046144-78046344	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr2:78018670-78018890	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr2:78027554-78027828	SH-SY5Y	brain:	n/a	n/a
38	JUND	chr2:78024257-78024495	H1-hESC	embryonic stem cell:	n/a	chr2:78024399-78024407 chr2:78024399-78024406
39	KAP1	chr2:78061448-78062080	HEK293	kidney:	n/a	n/a
40	KAP1	chr2:78061512-78062207	U2OS	brain:	n/a	n/a
41	MAFF	chr2:78018707-78018937	HepG2	liver:	n/a	chr2:78018769-78018787
42	MAFK	chr2:78056895-78057146	HepG2	liver:	n/a	n/a
43	MAFK	chr2:78018629-78018930	HepG2	liver:	n/a	chr2:78018770-78018784 chr2:78018771-78018787 chr2:78018772-78018783 chr2:78018771-78018786
44	MAFK	chr2:78018627-78018907	HepG2	liver:	n/a	chr2:78018770-78018784 chr2:78018771-78018787 chr2:78018772-78018783 chr2:78018771-78018786
45	MAFK	chr2:78068742-78069006	HepG2	liver:	n/a	chr2:78068860-78068871
46	MAFK	chr2:78056823-78057194	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAFK	chr2:78043840-78044081	HepG2	liver:	n/a	chr2:78043921-78043930 chr2:78043921-78043931
48	MAX	chr2:78059105-78059239	HepG2	liver:	n/a	n/a
49	MAZ	chr2:78020187-78020305	HepG2	liver:	n/a	n/a
50	MYC	chr2:78036494-78036560	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56735169..56737848-chr2:78047828..78049670,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78066895-78067016	NR_110288
2	lnc-REG3G-9	chr2:78019947-78020151	NONHSAT071834
3	lnc-REG3G-9	chr2:78019858-78020279	NONHSAT071833

Variant related genes	Relation type
ENSG00000237077	TF binding region
ENSG00000202077	chromatin interactions

Extended variants
information (count: 1753 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1753 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7564473	chr2:78017869-78017870	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533980328	chr2:78017882-78017883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs112435597	chr2:78017912-78017913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs529721802	chr2:78017925-78017926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs189928479	chr2:78017940-78017941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs146235479	chr2:78017986-78017987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs532077576	chr2:78018018-78018019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181137746	chr2:78018048-78018049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565765580	chr2:78018055-78018056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534508271	chr2:78018057-78018058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554484450	chr2:78018065-78018066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140080580	chr2:78018074-78018075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1386382	chr2:78018076-78018077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186128446	chr2:78018092-78018093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114011913	chr2:78018133-78018134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11688027	chr2:78018164-78018165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190442798	chr2:78018170-78018171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183020761	chr2:78018171-78018172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142000605	chr2:78018183-78018184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562368390	chr2:78018201-78018202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187631921	chr2:78018262-78018263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543423160	chr2:78018276-78018277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72815133	chr2:78018324-78018325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532113909	chr2:78018353-78018354	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs57022884	chr2:78018369-78018370	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs191907765	chr2:78018396-78018397	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs146314969	chr2:78018400-78018401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs554408135	chr2:78018403-78018404	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs72929832	chr2:78018447-78018448	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs74261110	chr2:78018560-78018561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568029711	chr2:78018597-78018598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539873613	chr2:78018618-78018619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536982390	chr2:78018688-78018689	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs550829733	chr2:78018693-78018694	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs182945648	chr2:78018744-78018745	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs576740457	chr2:78018759-78018760	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs1979561	chr2:78018761-78018762	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573326389	chr2:78018782-78018783	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs536074452	chr2:78018826-78018827	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs562349124	chr2:78018901-78018902	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs555965494	chr2:78018911-78018912	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs529811884	chr2:78018918-78018919	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs187494313	chr2:78018938-78018939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544608812	chr2:78018944-78018945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139252342	chr2:78018957-78018958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564799948	chr2:78018963-78018964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576805128	chr2:78018974-78018975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116677166	chr2:78018983-78018984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548358376	chr2:78018996-78018997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560429875	chr2:78019023-78019024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78017800-78018000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:78018000-78021200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:78023800-78024600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:78023800-78025000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:78023800-78025200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:78024200-78024600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:78024200-78024800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:78024400-78025200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:78031000-78031200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:78031400-78032000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:78031600-78031800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:78031800-78033000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:78032000-78033000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:78032800-78033000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:78033000-78033400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:78033000-78036000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:78033800-78036000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:78034800-78035000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:78035000-78035400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:78035200-78035800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:78035200-78035800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:78035600-78035800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr2:78035800-78040600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:78040000-78041000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:78040400-78041000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:78040600-78041000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:78040600-78041000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:78040600-78041000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:78040600-78041000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:78040600-78041200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:78040600-78041200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:78040600-78041200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:78040600-78041400	Enhancers	HepG2	liver
34	chr2:78040600-78042200	Enhancers	Fetal Intestine Large	intestine
35	chr2:78041000-78043600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:78041200-78048800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:78041400-78043600	Weak transcription	HepG2	liver
38	chr2:78043600-78044000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:78043600-78044000	Enhancers	HepG2	liver
40	chr2:78044000-78048800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:78044000-78050000	Weak transcription	HepG2	liver
42	chr2:78048800-78049600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:78048800-78049800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:78048800-78050000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:78048800-78050200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:78049600-78055600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:78050000-78050400	Enhancers	Fetal Intestine Large	intestine
48	chr2:78050000-78050800	Enhancers	HepG2	liver
49	chr2:78050400-78050800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr2:78050800-78058000	Weak transcription	HepG2	liver

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