Variant report

Variant	esv3436972
Chromosome Location	chr2:35039248-35044546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:35041098-35041398	K562	blood:	n/a	n/a
2	BHLHE40	chr2:35042118-35042381	HepG2	liver:	n/a	n/a
3	BHLHE40	chr2:35041520-35041884	HepG2	liver:	n/a	n/a
4	GABPA	chr2:35042102-35042390	HepG2	liver:	n/a	n/a
5	GABPA	chr2:35042211-35042414	GM12878	blood:	n/a	n/a
6	IRF4	chr2:35041368-35041871	GM12878	blood:	n/a	n/a
7	IRF4	chr2:35041337-35041907	GM12878	blood:	n/a	n/a
8	JUND	chr2:35041570-35041814	HepG2	liver:	n/a	n/a
9	JUND	chr2:35041595-35041826	HepG2	liver:	n/a	n/a
10	NR3C1	chr2:35041451-35041854	A549	lung:	n/a	n/a
11	NR3C1	chr2:35041342-35041884	A549	lung:	n/a	n/a
12	NRF1	chr2:35040479-35040525	H1-hESC	embryonic stem cell:	n/a	n/a
13	PAX5	chr2:35041828-35042232	GM12878	blood:	n/a	n/a
14	POLR2A	chr2:35042005-35042079	Gliobla	brain:	n/a	n/a
15	POLR2A	chr2:35041996-35042019	ProgFib	skin:	n/a	n/a
16	POLR2A	chr2:35042070-35042295	A549	lung:	n/a	n/a
17	POLR2A	chr2:35042030-35042150	ProgFib	skin:	n/a	n/a
18	POLR2A	chr2:35042298-35042318	A549	lung:	n/a	n/a
19	POLR2A	chr2:35040179-35040251	MCF10A-Er-Src	breast:	n/a	n/a
20	POU2F2	chr2:35042040-35042418	GM12878	blood:	n/a	n/a
21	POU2F2	chr2:35041500-35042008	GM12878	blood:	n/a	n/a
22	POU2F2	chr2:35041436-35042520	GM12891	blood:	n/a	n/a
23	RFX5	chr2:35040577-35040654	H1-hESC	embryonic stem cell:	n/a	n/a
24	SIX5	chr2:35041511-35041780	K562	blood:	n/a	n/a
25	SP1	chr2:35042011-35042408	HepG2	liver:	n/a	n/a
26	SP1	chr2:35041482-35041938	HepG2	liver:	n/a	n/a
27	SUZ12	chr2:35041071-35041564	H1-hESC	embryonic stem cell:	n/a	n/a
28	TCF7L2	chr2:35039234-35039663	HEK293	kidney:	n/a	n/a
29	USF1	chr2:35044402-35044556	H1-hESC	embryonic stem cell:	n/a	n/a
30	USF1	chr2:35044303-35044575	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZBTB33	chr2:35041921-35042485	GM12878	blood:	n/a	n/a
32	ZBTB33	chr2:35041556-35041919	GM12878	blood:	n/a	n/a
33	ZBTB33	chr2:35041571-35042016	HepG2	liver:	n/a	n/a
34	ZBTB33	chr2:35042140-35042384	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-5	chr2:35042159-35042319	XLOC_001426
2	lnc-RASGRP3-5	chr2:35041549-35041945	XLOC_001426

No data

Variant related genes	Relation type
RN7SL602P	TF binding region

Extended variants
information (count: 414 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139772545	chr2:35039252-35039253	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs76688278	chr2:35039258-35039259	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553221347	chr2:35039274-35039275	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs181852454	chr2:35039284-35039285	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs75233957	chr2:35039287-35039288	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs80083121	chr2:35039321-35039322	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs537782160	chr2:35039322-35039323	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs145701561	chr2:35039351-35039352	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs185266094	chr2:35039358-35039359	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs539911763	chr2:35039368-35039369	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs560200664	chr2:35039388-35039389	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs77029031	chr2:35039398-35039399	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs573509358	chr2:35039410-35039411	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs140528868	chr2:35039479-35039480	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs562504106	chr2:35039487-35039488	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs79438602	chr2:35039526-35039527	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs188179175	chr2:35039559-35039560	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs564636511	chr2:35039560-35039561	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs180702327	chr2:35039582-35039583	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs546732962	chr2:35039595-35039596	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs186395434	chr2:35039621-35039622	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529408058	chr2:35039640-35039641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28421359	chr2:35039647-35039648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs79931258	chr2:35039668-35039669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191304524	chr2:35039699-35039700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557643058	chr2:35039703-35039704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571312326	chr2:35039713-35039714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533992470	chr2:35039714-35039715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115884940	chr2:35039724-35039725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78480356	chr2:35039725-35039726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542775805	chr2:35039750-35039751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183540918	chr2:35039760-35039761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556169938	chr2:35039820-35039821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115437761	chr2:35039833-35039834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146637590	chr2:35039839-35039840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564806124	chr2:35039897-35039898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565085942	chr2:35039915-35039916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186026779	chr2:35039933-35039934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540810844	chr2:35039956-35039957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191192743	chr2:35039992-35039993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375767260	chr2:35040074-35040075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150246823	chr2:35040090-35040091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141329675	chr2:35040107-35040108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559652287	chr2:35040120-35040121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529986632	chr2:35040141-35040142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183356132	chr2:35040145-35040146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370123112	chr2:35040188-35040189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551213542	chr2:35040255-35040256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571513153	chr2:35040287-35040288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533878917	chr2:35040319-35040320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35029600-35046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:35035000-35041200	Weak transcription	Pancreas	Pancrea
3	chr2:35035200-35039400	Weak transcription	Gastric	stomach
4	chr2:35036000-35039400	Weak transcription	Stomach Mucosa	stomach
5	chr2:35036000-35039600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:35039400-35039600	Enhancers	Stomach Mucosa	stomach
7	chr2:35039600-35039800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:35039600-35040000	Weak transcription	Stomach Mucosa	stomach
9	chr2:35039800-35040200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:35040000-35040800	Enhancers	Stomach Mucosa	stomach
11	chr2:35040200-35040600	Enhancers	Liver	Liver
12	chr2:35040200-35040800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:35040800-35042400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:35041200-35041400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:35041200-35041400	Enhancers	Gastric	stomach
16	chr2:35041200-35041600	Enhancers	Pancreas	Pancrea
17	chr2:35041400-35044400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:35044400-35044600	Enhancers	H9 Cell Line	embryonic stem cell

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