Variant report

Variant	esv2759066
Chromosome Location	chr2:77185856-77209051
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	BHLHE40	chr2:77202307-77202452	GM12878	blood:	n/a	n/a
2	CEBPB	chr2:77203949-77204214	HepG2	liver:	n/a	n/a
3	CTCF	chr2:77186051-77186118	LNCaP	prostate:	n/a	n/a
4	E2F4	chr2:77197771-77197938	MCF10A-Er-Src	breast:	n/a	n/a
5	EBF1	chr2:77207269-77207532	GM12878	blood:	n/a	chr2:77207376-77207387 chr2:77207375-77207388 chr2:77207377-77207386
6	EBF1	chr2:77188609-77188627	GM12878	blood:	n/a	n/a
7	EBF1	chr2:77207183-77207735	GM12878	blood:	n/a	chr2:77207376-77207387 chr2:77207375-77207388 chr2:77207377-77207386
8	EP300	chr2:77204995-77205512	SK-N-SH_RA	brain:	n/a	chr2:77205344-77205353 chr2:77205047-77205061
9	FOS	chr2:77206874-77206992	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr2:77202898-77203323	HUVEC	blood vessel:	n/a	chr2:77202979-77202991
11	FOS	chr2:77205159-77205584	HUVEC	blood vessel:	n/a	chr2:77205344-77205352 chr2:77205344-77205351 chr2:77205342-77205353 chr2:77205345-77205356 chr2:77205344-77205352
12	FOXA1	chr2:77185907-77186188	T-47D	breast:	n/a	n/a
13	GTF2F1	chr2:77186016-77186113	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAFF	chr2:77198735-77198909	HepG2	liver:	n/a	chr2:77198804-77198822
15	MAFK	chr2:77198755-77198845	HepG2	liver:	n/a	chr2:77198805-77198820 chr2:77198810-77198821 chr2:77198808-77198822 chr2:77198809-77198820 chr2:77198809-77198820 chr2:77198810-77198821
16	MAFK	chr2:77188375-77188482	HepG2	liver:	n/a	n/a
17	MAFK	chr2:77198709-77198932	HepG2	liver:	n/a	chr2:77198805-77198820 chr2:77198810-77198821 chr2:77198808-77198822 chr2:77198809-77198820 chr2:77198809-77198820 chr2:77198810-77198821
18	MAFK	chr2:77195135-77195139	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr2:77185954-77186199	NB4	blood:	n/a	n/a
20	MAX	chr2:77185935-77186250	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr2:77185809-77185865	GM12878	blood:	n/a	n/a
22	MYC	chr2:77207739-77207891	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr2:77186022-77186295	NB4	blood:	n/a	n/a
24	NFYB	chr2:77207741-77207980	GM12878	blood:	n/a	chr2:77207914-77207924 chr2:77207912-77207926 chr2:77207913-77207926
25	POLR2A	chr2:77206227-77206815	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr2:77200560-77201174	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr2:77206201-77206708	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr2:77193888-77194010	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr2:77200607-77201261	H1-neurons	neurons:	n/a	n/a
30	RAD21	chr2:77185886-77186234	H1-hESC	embryonic stem cell:	n/a	n/a
31	RCOR1	chr2:77186049-77186053	HepG2	liver:	n/a	n/a
32	REST	chr2:77185634-77186491	MCF-7	breast:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
33	REST	chr2:77205850-77206955	H1-neurons	neurons:	n/a	chr2:77206533-77206541 chr2:77206523-77206543 chr2:77206523-77206543
34	REST	chr2:77185872-77186403	GM12878	blood:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
35	REST	chr2:77185891-77186294	HCT-116	colon:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
36	REST	chr2:77185960-77186221	GM12878	blood:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
37	REST	chr2:77186723-77186954	H1-hESC	embryonic stem cell:	n/a	n/a
38	REST	chr2:77185811-77186328	H1-hESC	embryonic stem cell:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
39	REST	chr2:77185845-77186491	PANC-1	pancreas:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
40	REST	chr2:77185922-77186162	PANC-1	pancreas:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
41	REST	chr2:77185796-77186499	PFSK-1	brain:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
42	REST	chr2:77185608-77186543	Hela-S3	cervix:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
43	REST	chr2:77185676-77186518	ECC-1	luminal epithelium:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
44	REST	chr2:77185810-77186324	PFSK-1	brain:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
45	REST	chr2:77185895-77186224	SK-N-SH	brain:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
46	REST	chr2:77185920-77186236	A549	lung:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
47	REST	chr2:77185908-77186226	K562	blood:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
48	REST	chr2:77185933-77186184	PANC-1	pancreas:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
49	REST	chr2:77185971-77186186	GM12878	blood:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107
50	REST	chr2:77185914-77186315	Hela-S3	cervix:	n/a	chr2:77186087-77186107 chr2:77186092-77186101 chr2:77186087-77186107 chr2:77186088-77186106 chr2:77186087-77186107 chr2:77186093-77186107

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:77179669..77181456-chr2:77188236..77191117,3	K562	blood:

Variant related genes	Relation type
ENSG00000234653	TF binding region

Extended variants
information (count: 435 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13025838	chr2:77185856-77185857	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569311852	chr2:77185857-77185858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529019583	chr2:77185866-77185867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74893930	chr2:77185868-77185869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184085280	chr2:77185876-77185877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370028213	chr2:77185885-77185886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188624086	chr2:77185900-77185901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538938994	chr2:77185919-77185920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17405724	chr2:77185927-77185928	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs34256194	chr2:77185966-77185967	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181411015	chr2:77185971-77185972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558469323	chr2:77185998-77185999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185899519	chr2:77186040-77186041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576453776	chr2:77186045-77186046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543836589	chr2:77186064-77186065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550550418	chr2:77186124-77186125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190443714	chr2:77186125-77186126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375591756	chr2:77186130-77186131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36001046	chr2:77186137-77186138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6760779	chr2:77186138-77186139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540893622	chr2:77186217-77186218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78787252	chr2:77186279-77186280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376615538	chr2:77186287-77186288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574244967	chr2:77186303-77186304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370034644	chr2:77186320-77186321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541619306	chr2:77186343-77186344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62170343	chr2:77186361-77186362	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562668266	chr2:77186390-77186391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530505830	chr2:77186414-77186415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111857167	chr2:77186433-77186434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17333850	chr2:77186436-77186437	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563895583	chr2:77186487-77186488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571550937	chr2:77186490-77186491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80159788	chr2:77186518-77186519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372745844	chr2:77186531-77186532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141142385	chr2:77186562-77186563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182325776	chr2:77186569-77186570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376074715	chr2:77186573-77186574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575272688	chr2:77186574-77186575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34728498	chr2:77186601-77186602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200323380	chr2:77186620-77186621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79519553	chr2:77186625-77186626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35905674	chr2:77186626-77186627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548788689	chr2:77186627-77186628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570162630	chr2:77186633-77186634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72823116	chr2:77186653-77186654	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs75164163	chr2:77186676-77186677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186047543	chr2:77186732-77186733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77015595	chr2:77186734-77186735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552896103	chr2:77186742-77186743	Enhancers 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
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77182200-77186800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:77183000-77186200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:77185600-77186800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:77185600-77187400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:77185800-77186800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:77186200-77186800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:77186600-77187000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:77186800-77187000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:77193000-77193400	Active TSS	Liver	Liver
10	chr2:77193000-77193600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:77193000-77193800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:77193000-77193800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:77202000-77202400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:77202600-77204200	Enhancers	HUVEC	blood vessel
15	chr2:77203000-77206600	Enhancers	Fetal Lung	lung
16	chr2:77203800-77206800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr2:77204200-77204600	Weak transcription	HUVEC	blood vessel
18	chr2:77204600-77206200	Enhancers	HUVEC	blood vessel
19	chr2:77204800-77205400	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:77205000-77206800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:77206200-77211200	Weak transcription	HUVEC	blood vessel
22	chr2:77206600-77211600	Weak transcription	Fetal Lung	lung
23	chr2:77206800-77208000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:77206800-77211600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:77208000-77208600	Enhancers	Pancreatic Islets	Pancreatic Islet

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