Variant report

Variant	esv1005641
Chromosome Location	chr2:113720402-113728169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:113724613-113724801	K562	blood:	n/a	n/a
2	CEBPB	chr2:113720388-113720637	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr2:113720379-113720688	K562	blood:	n/a	n/a
4	FOS	chr2:113720348-113720676	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr2:113720348-113720684	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr2:113720405-113720604	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:113720398-113720690	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA2	chr2:113724682-113724873	HepG2	liver:	n/a	n/a
9	KAP1	chr2:113724664-113724870	K562	blood:	n/a	n/a
10	MAFK	chr2:113726949-113727085	HepG2	liver:	n/a	chr2:113727015-113727030
11	NFYB	chr2:113724373-113724499	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:113727522-113727946	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr2:113727459-113728008	H1-neurons	neurons:	n/a	n/a
14	STAT3	chr2:113720465-113720577	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr2:113720373-113720604	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113716265..113720193-chr2:113720770..113723429,3	MCF-7	breast:
2	chr2:113719430..113721104-chr2:113727150..113729244,2	K562	blood:
3	chr2:113719430..113721104-chr2:113727150..113729244,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL36G-1	chr2:113724814-113724969	ucscGeneNc_uc002tjs_2

No data

Variant related genes	Relation type
IL36G	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79033545	chr2:113720412-113720413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139452168	chr2:113720460-113720461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544627780	chr2:113720473-113720474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182613400	chr2:113720503-113720504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187265934	chr2:113720511-113720512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144127082	chr2:113720524-113720525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145396482	chr2:113720537-113720538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567245139	chr2:113720565-113720566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571677723	chr2:113724866-113724867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs535000803	chr2:113724873-113724874	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs538057975	chr2:113724929-113724930	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs150318085	chr2:113724934-113724935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs574692969	chr2:113724945-113724946	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs137943163	chr2:113724968-113724969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs72942482	chr2:113726437-113726438	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149419708	chr2:113726443-113726444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530385809	chr2:113726457-113726458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189919324	chr2:113726461-113726462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573359773	chr2:113726492-113726493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375535803	chr2:113726497-113726498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555820513	chr2:113726501-113726502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369675744	chr2:113726522-113726523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377745405	chr2:113726525-113726526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368676185	chr2:113726528-113726529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79836460	chr2:113726537-113726538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35880601	chr2:113726580-113726581	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532012453	chr2:113726603-113726604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559054303	chr2:113726616-113726617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528150671	chr2:113726781-113726782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547850882	chr2:113726829-113726830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144807036	chr2:113726830-113726831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76830532	chr2:113726841-113726842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530480822	chr2:113726872-113726873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17607787	chr2:113726882-113726883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114472980	chr2:113726897-113726898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371755546	chr2:113726905-113726906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540073822	chr2:113726908-113726909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112643571	chr2:113726915-113726916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111908553	chr2:113726926-113726927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567044323	chr2:113726937-113726938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535968255	chr2:113726943-113726944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555790030	chr2:113726964-113726965	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs575551691	chr2:113727015-113727016	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs142884562	chr2:113727038-113727039	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs11897907	chr2:113727061-113727062	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576708087	chr2:113727131-113727132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545619294	chr2:113727165-113727166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146086039	chr2:113727201-113727202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528233291	chr2:113727217-113727218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537596256	chr2:113727237-113727238	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113715800-113720600	Weak transcription	Fetal Intestine Small	intestine
2	chr2:113726400-113727000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr2:113726400-113727000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:113726400-113727200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr2:113726400-113727400	Enhancers	Primary T cells from cord blood	blood
6	chr2:113726600-113727000	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:113726600-113727000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:113726600-113727000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr2:113726600-113727000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:113726600-113727200	Enhancers	Fetal Thymus	thymus
11	chr2:113726600-113727400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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