Variant report

Variant	esv2753453
Chromosome Location	chr2:113726882-113730425
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	E2F4	chr2:113730015-113730296	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr2:113729870-113730644	MCF10A-Er-Src	breast:	n/a	chr2:113730501-113730511 chr2:113730495-113730507 chr2:113730501-113730511 chr2:113730503-113730514 chr2:113730502-113730510
3	FOS	chr2:113729883-113730489	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr2:113729851-113730726	MCF10A-Er-Src	breast:	n/a	chr2:113730501-113730511 chr2:113730495-113730507 chr2:113730501-113730511 chr2:113730503-113730514 chr2:113730502-113730510
5	FOS	chr2:113729921-113730646	MCF10A-Er-Src	breast:	n/a	chr2:113730501-113730511 chr2:113730495-113730507 chr2:113730501-113730511 chr2:113730503-113730514 chr2:113730502-113730510
6	MAFK	chr2:113726949-113727085	HepG2	liver:	n/a	chr2:113727015-113727030
7	MYC	chr2:113729901-113730555	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr2:113729921-113730627	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr2:113727522-113727946	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr2:113727459-113728008	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr2:113729849-113730145	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr2:113729997-113730297	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr2:113729935-113730782	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr2:113729947-113730713	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr2:113730015-113730450	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113719430..113721104-chr2:113727150..113729244,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL36G-1	chr2:113729437-113729596	ucscGeneNc_uc002tjs_2

Variant related genes	Relation type
IL36G	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17607787	chr2:113726882-113726883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114472980	chr2:113726897-113726898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371755546	chr2:113726905-113726906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540073822	chr2:113726908-113726909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112643571	chr2:113726915-113726916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111908553	chr2:113726926-113726927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567044323	chr2:113726937-113726938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535968255	chr2:113726943-113726944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555790030	chr2:113726964-113726965	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs575551691	chr2:113727015-113727016	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs142884562	chr2:113727038-113727039	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs11897907	chr2:113727061-113727062	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576708087	chr2:113727131-113727132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545619294	chr2:113727165-113727166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146086039	chr2:113727201-113727202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528233291	chr2:113727217-113727218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537596256	chr2:113727237-113727238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561820647	chr2:113727259-113727260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182083364	chr2:113727271-113727272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550535879	chr2:113727368-113727369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571087230	chr2:113727376-113727377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116676115	chr2:113727466-113727467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs547281558	chr2:113727476-113727477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs57933461	chr2:113727507-113727508	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10174484	chr2:113727570-113727571	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs186852085	chr2:113727572-113727573	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs79427700	chr2:113727594-113727595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs537883802	chr2:113727598-113727599	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs143596847	chr2:113727641-113727642	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs575197922	chr2:113727685-113727686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs577584841	chr2:113727763-113727764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs539362440	chr2:113727861-113727862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs376195020	chr2:113727913-113727914	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs552803820	chr2:113727918-113727919	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs572750675	chr2:113727926-113727927	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs534189113	chr2:113727965-113727966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs181950378	chr2:113727966-113727967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs146775246	chr2:113727983-113727984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs540471619	chr2:113729256-113729257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188422307	chr2:113729312-113729313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75454753	chr2:113729319-113729320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531600935	chr2:113729345-113729346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552942301	chr2:113729367-113729368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551882778	chr2:113729386-113729387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138290123	chr2:113729387-113729388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564889902	chr2:113729443-113729444	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs533888165	chr2:113729451-113729452	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs562172567	chr2:113729469-113729470	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs192321742	chr2:113729524-113729525	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs184855294	chr2:113729534-113729535	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113726400-113727000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr2:113726400-113727000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:113726400-113727200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr2:113726400-113727400	Enhancers	Primary T cells from cord blood	blood
5	chr2:113726600-113727000	Enhancers	Primary hematopoietic stem cells	blood
6	chr2:113726600-113727000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:113726600-113727000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr2:113726600-113727000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:113726600-113727200	Enhancers	Fetal Thymus	thymus
10	chr2:113726600-113727400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:113729200-113731600	Enhancers	HMEC	breast
12	chr2:113729400-113729600	Enhancers	NHEK	skin
13	chr2:113729400-113731400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:113729600-113729800	Flanking Active TSS	NHEK	skin
15	chr2:113729600-113731200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:113729600-113731200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:113729800-113730200	Enhancers	NHEK	skin
18	chr2:113730200-113730600	Flanking Active TSS	NHEK	skin

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