Variant report

Variant	esv1796337
Chromosome Location	chr2:186618494-186704965
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:368)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:186678380-186678904	HepG2	liver:	n/a	n/a
2	ATF1	chr2:186693024-186693115	K562	blood:	n/a	n/a
3	BACH1	chr2:186698786-186698866	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr2:186661618-186661923	GM12878	blood:	n/a	n/a
5	BATF	chr2:186650918-186651197	GM12878	blood:	n/a	chr2:186651050-186651061
6	BATF	chr2:186650911-186651150	GM12878	blood:	n/a	chr2:186651050-186651061
7	BHLHE40	chr2:186678411-186678682	HepG2	liver:	n/a	n/a
8	BHLHE40	chr2:186678327-186678780	HepG2	liver:	n/a	n/a
9	BHLHE40	chr2:186678322-186678854	HepG2	liver:	n/a	n/a
10	CBX3	chr2:186700648-186700857	K562	blood:	n/a	n/a
11	CCNT2	chr2:186663343-186663462	K562	blood:	n/a	n/a
12	CEBPB	chr2:186667439-186667974	MCF-7	breast:	n/a	n/a
13	CEBPB	chr2:186672123-186672410	HepG2	liver:	n/a	chr2:186672262-186672273
14	CEBPB	chr2:186678456-186678731	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:186704316-186704484	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:186688718-186689043	HepG2	liver:	n/a	chr2:186688892-186688903
17	CEBPB	chr2:186678268-186678983	MCF-7	breast:	n/a	n/a
18	CEBPB	chr2:186672115-186672546	MCF-7	breast:	n/a	chr2:186672262-186672273
19	CEBPB	chr2:186689277-186689483	A549	lung:	n/a	n/a
20	CEBPB	chr2:186678397-186678842	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:186703330-186703591	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:186678455-186678798	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:186686254-186686488	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:186663488-186664150	IMR90	lung:	n/a	chr2:186663973-186663984
25	CEBPB	chr2:186678446-186678832	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:186678328-186678831	MCF-7	breast:	n/a	n/a
27	CEBPB	chr2:186688776-186689060	IMR90	lung:	n/a	chr2:186688892-186688903
28	CEBPB	chr2:186663341-186664155	HepG2	liver:	n/a	chr2:186663973-186663984
29	CEBPB	chr2:186680248-186680252	HepG2	liver:	n/a	n/a
30	CEBPB	chr2:186663817-186664105	A549	lung:	n/a	chr2:186663973-186663984
31	CEBPD	chr2:186678456-186678749	HepG2	liver:	n/a	n/a
32	CHD1	chr2:186651270-186651353	GM12878	blood:	n/a	n/a
33	CHD2	chr2:186651414-186651424	GM12878	blood:	n/a	n/a
34	CTCF	chr2:186693160-186693310	HA-sp	spinal cord:	n/a	chr2:186693241-186693249
35	CTCF	chr2:186693120-186693270	HepG2	liver:	n/a	chr2:186693241-186693249
36	CTCF	chr2:186693220-186693370	HEEpiC	esophagus:	n/a	chr2:186693241-186693249
37	CTCF	chr2:186686369-186686404	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr2:186693209-186693305	MCF-7	breast:	n/a	chr2:186693241-186693249
39	CTCF	chr2:186693159-186693357	MCF-7	breast:	n/a	chr2:186693241-186693249
40	CTCF	chr2:186693120-186693270	HMF	breast:	n/a	chr2:186693241-186693249
41	CTCF	chr2:186693153-186693311	HepG2	liver:	n/a	chr2:186693241-186693249
42	CTCF	chr2:186693160-186693310	HMEC	breast:	n/a	chr2:186693241-186693249
43	CTCF	chr2:186693199-186693324	LNCaP	prostate:	n/a	chr2:186693241-186693249
44	CTCF	chr2:186667300-186667450	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr2:186693160-186693310	MCF-7	breast:	n/a	chr2:186693241-186693249
46	CTCF	chr2:186693216-186693281	Hela-S3	cervix:	n/a	chr2:186693241-186693249
47	CTCF	chr2:186693162-186693311	LNCaP	prostate:	n/a	chr2:186693241-186693249
48	CUX1	chr2:186650793-186651412	GM12878	blood:	n/a	chr2:186651337-186651346
49	E2F4	chr2:186652308-186652616	MCF10A-Er-Src	breast:	n/a	chr2:186652475-186652484
50	E2F4	chr2:186622133-186622388	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:186657715..186659336-chr2:186665984..186667594,2	K562	blood:
2	chr2:186677322..186681085-chr2:186681928..186686220,4	MCF-7	breast:
3	chr2:186650871..186652540-chr2:186657235..186659322,2	K562	blood:
4	chr2:186650871..186652540-chr2:186657235..186659322,2	K562	blood:
5	chr2:186614301..186616575-chr2:186619081..186620745,2	MCF-7	breast:
6	chr2:186669335..186673195-chr2:186676461..186681487,4	MCF-7	breast:
7	chr2:186677322..186681085-chr2:186681928..186686220,4	MCF-7	breast:
8	chr2:186658483..186660924-chr2:186661633..186664592,2	MCF-7	breast:
9	chr2:186667156..186668174-chr2:186678025..186679009,3	MCF-7	breast:
10	chr2:186603504..186604272-chr2:186667407..186668108,2	MCF-7	breast:
11	chr2:186676855..186679682-chr2:187312216..187314480,2	MCF-7	breast:
12	chr2:186669335..186673195-chr2:186676461..186681487,4	MCF-7	breast:
13	chr2:186657715..186659336-chr2:186665984..186667594,2	K562	blood:
14	chr2:186668006..186669704-chr2:186673363..186675121,2	MCF-7	breast:
15	chr2:186668006..186669704-chr2:186673363..186675121,2	MCF-7	breast:
16	chr2:186667156..186668174-chr2:186678025..186679009,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-5	chr2:186664807-186664877	ENSG00000231646.1
2	lnc-ZSWIM2-5	chr2:186664807-186664878	ENSG00000231646.1
3	lnc-ZSWIM2-5	chr2:186648418-186648857	ENSG00000231646.1
4	lnc-ZSWIM2-5	chr2:186652747-186652936	ENSG00000231646.1
5	lnc-ZSWIM2-5	chr2:186653493-186653670	ENSG00000231646.1
6	lnc-ZSWIM2-5	chr2:186653493-186653670	ENSG00000231646.1

No data

Variant related genes	Relation type
ENSG00000231646	TF binding region
FSIP2	TF binding region
ENSG00000226747	chromatin interactions
ENSG00000188738	chromatin interactions

Extended variants
information (count: 1736 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1736 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9808218	chr2:186618494-186618495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569286068	chr2:186618497-186618498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531767210	chr2:186618551-186618552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35788389	chr2:186618633-186618634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550181143	chr2:186618637-186618638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143906608	chr2:186618656-186618657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532862090	chr2:186618691-186618692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117311115	chr2:186618707-186618708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566307994	chr2:186618818-186618819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536432681	chr2:186618868-186618869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116235578	chr2:186618890-186618891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372057027	chr2:186618891-186618892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115596228	chr2:186618893-186618894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188081792	chr2:186618911-186618912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555754588	chr2:186618915-186618916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577177641	chr2:186618983-186618984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544906272	chr2:186619068-186619069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191779169	chr2:186619070-186619071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146832448	chr2:186619176-186619177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371846689	chr2:186619192-186619193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561462867	chr2:186619291-186619292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531738176	chr2:186619359-186619360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183186491	chr2:186619361-186619362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574896519	chr2:186619466-186619467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540778960	chr2:186619500-186619501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542426944	chr2:186619546-186619547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201550028	chr2:186619560-186619561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565279048	chr2:186619579-186619580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532545851	chr2:186619592-186619593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548147214	chr2:186619611-186619612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566563665	chr2:186619722-186619723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140674541	chr2:186619733-186619734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530344744	chr2:186619787-186619788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79639580	chr2:186619788-186619789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570197135	chr2:186619789-186619790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187548559	chr2:186619807-186619808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191977590	chr2:186619864-186619865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185645255	chr2:186619879-186619880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143231819	chr2:186619883-186619884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554072060	chr2:186619940-186619941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572226106	chr2:186619956-186619957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374942801	chr2:186620062-186620063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190503189	chr2:186620142-186620143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560745000	chr2:186620213-186620214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151164140	chr2:186620251-186620252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574326386	chr2:186620329-186620330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565367315	chr2:186620341-186620342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116446685	chr2:186620398-186620399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577342970	chr2:186620408-186620409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192459997	chr2:186620418-186620419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Autism	18522746	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
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186603800-186622600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:186606800-186632000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:186613600-186635000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:186622000-186622800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:186622400-186625800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:186622600-186622800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:186628600-186635600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:186628800-186634800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:186629200-186635000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:186634800-186635200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:186634800-186637600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr2:186635000-186635200	ZNF genes & repeats	Colonic Mucosa	Colon
13	chr2:186635000-186635200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
14	chr2:186635000-186635400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
15	chr2:186635000-186636000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
16	chr2:186635000-186636600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:186635000-186636800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:186635000-186637200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:186635200-186635600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:186635200-186636600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr2:186635400-186636600	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr2:186635600-186636200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:186635600-186636200	ZNF genes & repeats	Liver	Liver
24	chr2:186635600-186636400	ZNF genes & repeats	Colonic Mucosa	Colon
25	chr2:186635800-186636400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:186635800-186636400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr2:186635800-186636400	ZNF genes & repeats	Fetal Stomach	stomach
28	chr2:186636000-186637200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
29	chr2:186637200-186637400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr2:186637200-186640600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:186637400-186638000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:186638000-186640400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:186640400-186641000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:186640600-186640800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:186647000-186647400	Enhancers	HepG2	liver
36	chr2:186647000-186647800	Enhancers	Fetal Intestine Large	intestine
37	chr2:186647200-186647400	Active TSS	Aorta	Aorta
38	chr2:186647800-186648600	Weak transcription	Fetal Intestine Large	intestine
39	chr2:186648000-186648200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr2:186648200-186670400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:186648600-186648800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr2:186648600-186649400	Enhancers	Fetal Intestine Large	intestine
43	chr2:186648800-186658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:186650400-186651600	Enhancers	GM12878-XiMat	blood
45	chr2:186650400-186653400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:186650600-186652400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr2:186651200-186651600	Enhancers	NHDF-Ad	bronchial
48	chr2:186651600-186652400	Weak transcription	NHDF-Ad	bronchial
49	chr2:186651600-186654800	Weak transcription	GM12878-XiMat	blood
50	chr2:186652000-186652600	Enhancers	NH-A	brain

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