Variant report

Variant	esv2842
Chromosome Location	chr2:99871889-99874318
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	CEBPB	chr2:99873103-99873596	ECC-1	luminal epithelium:	n/a	n/a
2	E2F4	chr2:99873297-99873534	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr2:99872950-99873679	ECC-1	luminal epithelium:	n/a	n/a
4	FOS	chr2:99873244-99873530	HUVEC	blood vessel:	n/a	chr2:99873414-99873425
5	FOS	chr2:99873185-99873549	MCF10A-Er-Src	breast:	n/a	chr2:99873414-99873425
6	FOS	chr2:99873185-99873595	MCF10A-Er-Src	breast:	n/a	chr2:99873414-99873425
7	FOS	chr2:99873122-99873600	MCF10A-Er-Src	breast:	n/a	chr2:99873414-99873425
8	FOS	chr2:99873129-99873600	MCF10A-Er-Src	breast:	n/a	chr2:99873414-99873425
9	GABPA	chr2:99871922-99872870	HL-60	blood:	n/a	n/a
10	GABPA	chr2:99872114-99872739	HL-60	blood:	n/a	n/a
11	JUN	chr2:99873374-99873492	HepG2	liver:	n/a	n/a
12	MYC	chr2:99873269-99873551	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr2:99873269-99873526	MCF10A-Er-Src	breast:	n/a	n/a
14	NFE2	chr2:99872098-99872221	GM12878	blood:	n/a	chr2:99872153-99872162 chr2:99872130-99872139
15	POLR2A	chr2:99872769-99872772	A549	lung:	n/a	n/a
16	POLR2A	chr2:99872935-99872970	Gliobla	brain:	n/a	n/a
17	POLR2A	chr2:99872733-99872766	A549	lung:	n/a	n/a
18	POLR2A	chr2:99872277-99872842	HL-60	blood:	n/a	n/a
19	POLR2A	chr2:99873300-99873393	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr2:99872585-99872699	A549	lung:	n/a	n/a
21	POLR2A	chr2:99872220-99872936	HL-60	blood:	n/a	n/a
22	PRDM1	chr2:99873942-99874032	Hela-S3	cervix:	n/a	n/a
23	SPI1	chr2:99872064-99872817	HL-60	blood:	n/a	chr2:99872381-99872388
24	STAT3	chr2:99873256-99873456	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr2:99873265-99873526	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr2:99873902-99873952	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr2:99873263-99873474	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr2:99873351-99873612	MCF10A-Er-Src	breast:	n/a	n/a
29	TEAD4	chr2:99873064-99873582	ECC-1	luminal epithelium:	n/a	n/a
30	USF1	chr2:99872018-99872315	ECC-1	luminal epithelium:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
31	USF1	chr2:99872033-99872238	HepG2	liver:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
32	USF1	chr2:99871926-99872286	H1-hESC	embryonic stem cell:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
33	USF1	chr2:99872028-99872190	HepG2	liver:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
34	USF1	chr2:99871880-99872445	HCT-116	colon:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
35	USF1	chr2:99871926-99872461	ECC-1	luminal epithelium:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
36	USF1	chr2:99872039-99872304	SK-N-SH	brain:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
37	USF1	chr2:99871970-99872257	K562	blood:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
38	USF1	chr2:99871988-99872319	H1-hESC	embryonic stem cell:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
39	USF2	chr2:99872050-99872315	Hela-S3	cervix:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
40	USF2	chr2:99872010-99872248	H1-hESC	embryonic stem cell:	n/a	chr2:99872128-99872139 chr2:99872151-99872162
41	USF2	chr2:99871979-99872308	HepG2	liver:	n/a	chr2:99872128-99872139 chr2:99872151-99872162

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:99872119-99872169	HRPEpiC	eye:	n/a
2	chr2:99872119-99872169	HMEC	breast:	n/a
3	chr2:99872119-99872169	H1-hESC	embryonic stem cell:	embryo
4	chr2:99871988-99872038	SK-N-SH	brain:	n/a
5	chr2:99871988-99872038	NB4	blood:	n/a
6	chr2:99872119-99872169	HepG2	liver:	n/a
7	chr2:99872119-99872169	NB4	blood:	n/a
8	chr2:99872119-99872169	K562	blood:	n/a
9	chr2:99872119-99872169	HRCEpiC	kidney:	n/a
10	chr2:99872119-99872169	AG10803	skin:	n/a
11	chr2:99872119-99872169	HCT-116	colon:	n/a
12	chr2:99871988-99872038	HRCEpiC	kidney:	n/a
13	chr2:99871988-99872038	AoSMC	blood vessel:	n/a
14	chr2:99871988-99872038	BE2_C	brain:	n/a
15	chr2:99872119-99872169	LNCaP	prostate:	n/a
16	chr2:99871988-99872038	AG09319	gingival:	n/a
17	chr2:99871988-99872038	T-47D	breast:	n/a
18	chr2:99872119-99872169	HCPEpiC	choroid plexus:	n/a
19	chr2:99872119-99872169	BJ	skin:	n/a
20	chr2:99872119-99872169	GM12892	blood:	n/a
21	chr2:99871988-99872038	HIPEpiC	eye:	n/a
22	chr2:99872119-99872169	HL-60	blood:	n/a
23	chr2:99871988-99872038	PANC-1	pancreas:	n/a
24	chr2:99871988-99872038	SK-N-SH_RA	brain:	n/a
25	chr2:99871988-99872038	GM06990	blood:	n/a
26	chr2:99872119-99872169	HEK293	kidney:	embryo
27	chr2:99871988-99872038	HepG2	liver:	n/a
28	chr2:99871988-99872038	LNCaP	prostate:	n/a
29	chr2:99871988-99872038	K562	blood:	n/a
30	chr2:99871988-99872038	RPTEC	kidney:	n/a
31	chr2:99872119-99872169	HCM	heart:	n/a
32	chr2:99872119-99872169	SK-N-SH_RA	brain:	n/a
33	chr2:99871988-99872038	GM12878	blood:	n/a
34	chr2:99872119-99872169	HAEpiC	amniotic membrane:	n/a
35	chr2:99872119-99872169	MCF10A-Er-Src	breast:	n/a
36	chr2:99871988-99872038	HUVEC	blood vessel:	n/a
37	chr2:99871988-99872038	HL-60	blood:	n/a
38	chr2:99872119-99872169	NT2-D1	testis:	n/a
39	chr2:99872119-99872169	NHDF-neo	bronchial:	n/a
40	chr2:99872119-99872169	AG04449	skin:	fetal
41	chr2:99872119-99872169	HNPCEpiC	eye:	n/a
42	chr2:99872119-99872169	NHBE	bronchial:	n/a
43	chr2:99871988-99872038	Hepatocyte	liver:	n/a
44	chr2:99871988-99872038	Hela-S3	cervix:	n/a
45	chr2:99871988-99872038	H1-hESC	embryonic stem cell:	embryo
46	chr2:99872119-99872169	RPTEC	kidney:	n/a
47	chr2:99872119-99872169	GM19239	blood:	n/a
48	chr2:99872119-99872169	SAEC	small airway:	n/a
49	chr2:99871988-99872038	AG04449	skin:	fetal
50	chr2:99871988-99872038	GM12892	blood:	n/a

Variant related genes	Relation type
LYG2	TF binding region
LYG2	CpG island

Extended variants
information (count: 88 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75890950	chr2:99871898-99871899	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs150119962	chr2:99871922-99871923	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs374192639	chr2:99871956-99871957	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs545906788	chr2:99871989-99871990	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs546999849	chr2:99871990-99871991	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs74410878	chr2:99872116-99872117	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs566911977	chr2:99872119-99872120	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs564556044	chr2:99872129-99872130	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs186606854	chr2:99872166-99872167	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs191058167	chr2:99872178-99872179	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs569389868	chr2:99872212-99872213	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs538068629	chr2:99872257-99872258	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs114122715	chr2:99872286-99872287	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2931509	chr2:99872345-99872346	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs574779052	chr2:99872354-99872355	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs540566955	chr2:99872374-99872375	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs543616919	chr2:99872380-99872381	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs145436752	chr2:99872426-99872427	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs2931510	chr2:99872439-99872440	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs368097878	chr2:99872441-99872442	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs576434437	chr2:99872452-99872453	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs561869586	chr2:99872454-99872455	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs77451321	chr2:99872491-99872492	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs182898512	chr2:99872496-99872497	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs6711977	chr2:99872579-99872580	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs186767836	chr2:99872627-99872628	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs527573206	chr2:99872634-99872635	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547760198	chr2:99872650-99872651	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs2450497	chr2:99872666-99872667	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs566824039	chr2:99872669-99872670	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs532409021	chr2:99872684-99872685	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs2450498	chr2:99872688-99872689	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs2450499	chr2:99872696-99872697	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs13000737	chr2:99872727-99872728	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs148827083	chr2:99872739-99872740	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs569271535	chr2:99872783-99872784	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs2450500	chr2:99872831-99872832	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs11676581	chr2:99872861-99872862	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs573558782	chr2:99872873-99872874	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs189620837	chr2:99872901-99872902	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs540947720	chr2:99872927-99872928	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs376693078	chr2:99872952-99872953	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs554055090	chr2:99873032-99873033	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs565861695	chr2:99873050-99873051	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs532923790	chr2:99873153-99873154	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs545236575	chr2:99873167-99873168	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs144133541	chr2:99873178-99873179	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs60684614	chr2:99873181-99873182	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs569382982	chr2:99873193-99873194	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545504136	chr2:99873204-99873205	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99840800-99874400	Weak transcription	Aorta	Aorta
2	chr2:99860400-99899800	Weak transcription	Psoas Muscle	Psoas
3	chr2:99861200-99879200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:99861200-99900800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:99861800-99899400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:99862000-99879200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:99869800-99880000	Weak transcription	Right Ventricle	heart
8	chr2:99872000-99872200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:99872000-99873200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:99872000-99873800	Enhancers	HMEC	breast
11	chr2:99872200-99872400	Bivalent Enhancer	HepG2	liver
12	chr2:99872200-99872600	Enhancers	NHEK	skin
13	chr2:99872200-99872800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:99872200-99873000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:99872200-99873600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:99872400-99872800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:99872400-99873000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:99872400-99873000	Enhancers	Esophagus	oesophagus
19	chr2:99872400-99873200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:99872400-99873600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:99872600-99873000	Flanking Active TSS	NHEK	skin
22	chr2:99872600-99873200	Enhancers	NH-A	brain
23	chr2:99872800-99873200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:99872800-99873400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:99873000-99873800	Enhancers	NHEK	skin
26	chr2:99873000-99877600	Weak transcription	Esophagus	oesophagus
27	chr2:99873200-99875600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:99873400-99877600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:99873600-99877800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:99873800-99877600	Weak transcription	HMEC	breast
31	chr2:99873800-99900600	Weak transcription	Ovary	ovary

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