Variant report

Variant	esv2592840
Chromosome Location	chr2:209941134-209949361
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	FOXA2	chr2:209947965-209948384	A549	lung:	n/a	n/a
5	JUN	chr2:209941794-209942091	HepG2	liver:	n/a	chr2:209941939-209941952
6	JUND	chr2:209941858-209942047	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr2:209941789-209942124	HepG2	liver:	n/a	n/a
8	JUND	chr2:209941010-209941155	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr2:209948923-209949115	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:209942689-209942911	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
HSPA8P6	TF binding region

Extended variants
information (count: 289 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370562151	chr2:209941155-209941156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs559313839	chr2:209941636-209941637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547054804	chr2:209941678-209941679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138187793	chr2:209941699-209941700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533189562	chr2:209941724-209941725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572076840	chr2:209941725-209941726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191559312	chr2:209941730-209941731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114803484	chr2:209941832-209941833	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs116930191	chr2:209941844-209941845	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs577406008	chr2:209941856-209941857	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs17675648	chr2:209941861-209941862	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs556746830	chr2:209941868-209941869	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs534703980	chr2:209941887-209941888	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs184827728	chr2:209941893-209941894	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs116529680	chr2:209941900-209941901	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs57209421	chr2:209941918-209941919	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs540553214	chr2:209941930-209941931	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs560179755	chr2:209941947-209941948	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs554510613	chr2:209941957-209941958	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs532385726	chr2:209941974-209941975	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs189632226	chr2:209942011-209942012	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs569956992	chr2:209942012-209942013	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs16842384	chr2:209942078-209942079	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192882663	chr2:209942083-209942084	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs568077929	chr2:209942091-209942092	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs150636371	chr2:209942103-209942104	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs138912297	chr2:209942110-209942111	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs571059755	chr2:209942136-209942137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540084572	chr2:209942151-209942152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556808152	chr2:209942158-209942159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570233334	chr2:209942168-209942169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185123628	chr2:209942171-209942172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200347359	chr2:209942172-209942173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190005209	chr2:209942195-209942196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572445182	chr2:209942226-209942227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559324637	chr2:209942241-209942242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541066489	chr2:209942266-209942267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111239693	chr2:209942280-209942281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558088095	chr2:209942303-209942304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377590423	chr2:209942329-209942330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146115350	chr2:209942376-209942377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78804485	chr2:209942383-209942384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545658202	chr2:209942389-209942390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562365455	chr2:209942399-209942400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531381793	chr2:209942423-209942424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572432575	chr2:209942428-209942429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16842388	chr2:209942430-209942431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561624625	chr2:209942432-209942433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576533316	chr2:209942443-209942444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527332116	chr2:209942444-209942445	Enhancers	n/a	n/a	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:13 , 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

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