Variant report

Variant	nsv508198
Chromosome Location	chr2:209935777-209950086
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	CTCF	chr2:209947512-209947571	GM20000	blood:	n/a	n/a
2	CTCF	chr2:209948063-209948098	GM20000	blood:	n/a	n/a
3	CUX1	chr2:209949277-209949285	GM12878	blood:	n/a	n/a
4	FOS	chr2:209937121-209937185	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr2:209938977-209939102	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr2:209938923-209939225	MCF10A-Er-Src	breast:	n/a	n/a
7	FOXA2	chr2:209947965-209948384	A549	lung:	n/a	n/a
8	JUN	chr2:209941794-209942091	HepG2	liver:	n/a	chr2:209941939-209941952
9	JUN	chr2:209941082-209941103	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUN	chr2:209949952-209950123	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr2:209941789-209942124	HepG2	liver:	n/a	n/a
12	JUND	chr2:209941010-209941155	H1-hESC	embryonic stem cell:	n/a	n/a
13	JUND	chr2:209941858-209942047	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAFK	chr2:209938821-209938962	HepG2	liver:	n/a	chr2:209938910-209938921 chr2:209938909-209938920 chr2:209938910-209938921
15	POLR2A	chr2:209950051-209950251	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:209942689-209942911	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr2:209949763-209949767	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr2:209948923-209949115	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr2:209939879-209940138	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr2:209936342-209936504	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr2:209939493-209939693	MCF10A-Er-Src	breast:	n/a	n/a
22	ZNF143	chr2:209941087-209941097	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
HSPA8P6	TF binding region

Extended variants
information (count: 337 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77361834	chr2:209938903-209938904	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs184963442	chr2:209938921-209938922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs13420592	chr2:209939027-209939028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139629625	chr2:209939104-209939105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs550701096	chr2:209939187-209939188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs545407277	chr2:209939198-209939199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs12694145	chr2:209939205-209939206	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559411683	chr2:209939505-209939506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs79492710	chr2:209939527-209939528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs545412109	chr2:209939544-209939545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs148764092	chr2:209939546-209939547	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs531055422	chr2:209939580-209939581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs569317807	chr2:209939585-209939586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs546372220	chr2:209939610-209939611	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs569152352	chr2:209939656-209939657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs537394744	chr2:209939660-209939661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs186331611	chr2:209939896-209939897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs529217740	chr2:209939922-209939923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs190010539	chr2:209939975-209939976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs113035802	chr2:209940048-209940049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs557204041	chr2:209940103-209940104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs369004723	chr2:209941055-209941056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs150838463	chr2:209941080-209941081	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs370562151	chr2:209941155-209941156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs559313839	chr2:209941636-209941637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547054804	chr2:209941678-209941679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138187793	chr2:209941699-209941700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533189562	chr2:209941724-209941725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572076840	chr2:209941725-209941726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191559312	chr2:209941730-209941731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114803484	chr2:209941832-209941833	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs116930191	chr2:209941844-209941845	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs577406008	chr2:209941856-209941857	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs17675648	chr2:209941861-209941862	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs556746830	chr2:209941868-209941869	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs534703980	chr2:209941887-209941888	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs184827728	chr2:209941893-209941894	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs116529680	chr2:209941900-209941901	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs57209421	chr2:209941918-209941919	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs540553214	chr2:209941930-209941931	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs560179755	chr2:209941947-209941948	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs554510613	chr2:209941957-209941958	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs532385726	chr2:209941974-209941975	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs189632226	chr2:209942011-209942012	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs569956992	chr2:209942012-209942013	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs16842384	chr2:209942078-209942079	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs192882663	chr2:209942083-209942084	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs568077929	chr2:209942091-209942092	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs150636371	chr2:209942103-209942104	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs138912297	chr2:209942110-209942111	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209941600-209942600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:209941800-209942400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:209942200-209942400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:209943200-209943600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:209944800-209945000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:209945200-209945400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:209945400-209949000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:209945400-209949200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:209947800-209949200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:209949000-209950000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:209949200-209949600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:209949200-209950000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:209949200-209950200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:209950000-209951400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:209950000-209955600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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