Variant report

Variant	esv3434695
Chromosome Location	chr2:187126495-187148916
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	chr2:187139715-187140087	IMR90	lung:	n/a	n/a
2	CTCF	chr2:187126455-187126541	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F4	chr2:187139767-187140029	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F6	chr2:187139417-187140142	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr2:187139628-187140090	H1-hESC	embryonic stem cell:	n/a	n/a
6	FOS	chr2:187146471-187146865	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:187146491-187146872	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr2:187139795-187140052	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr2:187139791-187140053	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr2:187146555-187146889	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:187146389-187146891	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr2:187139695-187140071	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:187139725-187140055	MCF10A-Er-Src	breast:	n/a	n/a
14	FOSL2	chr2:187139605-187140201	SK-N-SH	brain:	n/a	n/a
15	FOXA2	chr2:187139814-187140148	HepG2	liver:	n/a	n/a
16	GATA3	chr2:187138906-187138922	SH-SY5Y	brain:	n/a	n/a
17	JUND	chr2:187139725-187139997	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAFF	chr2:187141663-187141990	HepG2	liver:	n/a	chr2:187141831-187141849
19	MAFF	chr2:187128412-187128579	HepG2	liver:	n/a	n/a
20	MAFF	chr2:187137863-187138170	HepG2	liver:	n/a	chr2:187137993-187138011
21	MAFF	chr2:187141724-187141947	K562	blood:	n/a	chr2:187141831-187141849
22	MAFK	chr2:187128316-187128555	HepG2	liver:	n/a	n/a
23	MAFK	chr2:187141666-187141994	HepG2	liver:	n/a	chr2:187141832-187141847
24	MAFK	chr2:187137870-187138172	HepG2	liver:	n/a	chr2:187137995-187138010
25	MAFK	chr2:187128296-187128569	HepG2	liver:	n/a	n/a
26	MAFK	chr2:187137850-187138162	HepG2	liver:	n/a	chr2:187137995-187138010
27	MAFK	chr2:187141655-187142011	HepG2	liver:	n/a	chr2:187141832-187141847
28	MAFK	chr2:187141681-187141985	IMR90	lung:	n/a	chr2:187141832-187141847
29	MAX	chr2:187139727-187140053	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr2:187139711-187139988	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr2:187140052-187140074	NB4	blood:	n/a	n/a
32	MAX	chr2:187139751-187140051	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr2:187139698-187140030	SK-N-SH	brain:	n/a	n/a
34	MAZ	chr2:187139573-187140381	IMR90	lung:	n/a	n/a
35	MYC	chr2:187128826-187128827	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr2:187133390-187133435	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr2:187139738-187139948	MCF10A-Er-Src	breast:	n/a	n/a
38	MYC	chr2:187146531-187146837	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr2:187139741-187140035	MCF10A-Er-Src	breast:	n/a	n/a
40	NFYB	chr2:187129672-187129866	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:187148281-187148282	MCF10A-Er-Src	breast:	n/a	n/a
42	RCOR1	chr2:187139662-187140265	IMR90	lung:	n/a	n/a
43	SMC3	chr2:187128480-187128485	HepG2	liver:	n/a	n/a
44	STAT3	chr2:187139777-187139985	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr2:187146374-187146859	MCF10A-Er-Src	breast:	n/a	chr2:187146469-187146480 chr2:187146377-187146384
46	STAT3	chr2:187142860-187142982	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr2:187146465-187146782	MCF10A-Er-Src	breast:	n/a	chr2:187146469-187146480
48	STAT3	chr2:187146392-187146592	MCF10A-Er-Src	breast:	n/a	chr2:187146469-187146480
49	STAT3	chr2:187139780-187140035	MCF10A-Er-Src	breast:	n/a	n/a
50	TCF12	chr2:187139626-187140213	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:187144221..187146013-chr2:187148146..187151029,2	K562	blood:
2	chr10:23092682..23094839-chr2:187127661..187130019,2	MCF-7	breast:
3	chr2:187144221..187146013-chr2:187148146..187151029,2	K562	blood:

Variant related genes	Relation type
RPL23AP35	TF binding region

Extended variants
information (count: 678 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:678 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542152578	chr2:187126498-187126499	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs376757133	chr2:187126500-187126501	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200037732	chr2:187126506-187126507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs78408072	chr2:187126508-187126509	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs191845569	chr2:187126546-187126547	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs13421948	chr2:187126560-187126561	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs75805800	chr2:187126603-187126604	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs561383376	chr2:187126642-187126643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs564062878	chr2:187126715-187126716	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs528189342	chr2:187126722-187126723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs546762034	chr2:187126761-187126762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs35485907	chr2:187126771-187126772	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs376165487	chr2:187126774-187126775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs556645649	chr2:187126792-187126793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs145096634	chr2:187126793-187126794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs575037916	chr2:187126806-187126807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs138980700	chr2:187126840-187126841	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs374583510	chr2:187126985-187126986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs140900854	chr2:187127029-187127030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558147437	chr2:187127031-187127032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144677574	chr2:187127070-187127071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183574147	chr2:187127133-187127134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553161191	chr2:187127139-187127140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574723915	chr2:187127212-187127213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189568834	chr2:187127289-187127290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13411859	chr2:187127312-187127313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs538937928	chr2:187127394-187127395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113067479	chr2:187127412-187127413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200280221	chr2:187127419-187127420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397986941	chr2:187127429-187127430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575165059	chr2:187127447-187127448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34401428	chr2:187127448-187127449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545449715	chr2:187127487-187127488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564132084	chr2:187127500-187127501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528128729	chr2:187127514-187127515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138360384	chr2:187127636-187127637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554372102	chr2:187127694-187127695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149249362	chr2:187127761-187127762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs144587508	chr2:187127766-187127767	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs148055280	chr2:187127867-187127868	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs370393750	chr2:187127897-187127898	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs533697214	chr2:187127926-187127927	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs572978636	chr2:187127943-187127944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143769466	chr2:187128011-187128012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193044577	chr2:187128046-187128047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530129539	chr2:187128054-187128055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540175604	chr2:187128060-187128061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549547739	chr2:187128070-187128071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111855401	chr2:187128074-187128075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568241336	chr2:187128091-187128092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187120200-187139000	Weak transcription	Gastric	stomach
2	chr2:187122200-187128000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:187122800-187128200	Weak transcription	Ovary	ovary
4	chr2:187126400-187126600	ZNF genes & repeats	Spleen	Spleen
5	chr2:187126400-187127000	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr2:187128400-187139800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:187133600-187134600	Enhancers	Brain Hippocampus Middle	brain
8	chr2:187137200-187138000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:187137200-187139600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:187138000-187138200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr2:187138200-187140000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:187139600-187140200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:187139600-187140200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:187139600-187140200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:187139600-187140200	Enhancers	HSMMtube	muscle
16	chr2:187139600-187140200	Enhancers	NHDF-Ad	bronchial
17	chr2:187139600-187140200	Enhancers	Osteobl	bone
18	chr2:187139600-187140400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:187139800-187140200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:187139800-187140200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:187139800-187140200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:187139800-187140200	Enhancers	HSMM	muscle
23	chr2:187139800-187140400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:187140000-187140200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:187140000-187140400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:187140000-187140400	Enhancers	HMEC	breast
27	chr2:187140000-187140400	Active TSS	NH-A	brain
28	chr2:187140000-187140600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:187143400-187144000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:187145400-187146600	Weak transcription	Osteobl	bone
31	chr2:187146600-187147800	Enhancers	Osteobl	bone
32	chr2:187147800-187167600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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