Variant report

Variant	nsv998624
Chromosome Location	chr2:186735464-186845432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:374)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:374 , 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	chr2:186756102-186757040	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:186766781-186767039	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:186835223-186835544	HepG2	liver:	n/a	n/a
4	BRCA1	chr2:186775907-186775908	GM12878	blood:	n/a	n/a
5	CBX3	chr2:186836912-186837170	K562	blood:	n/a	n/a
6	CCNT2	chr2:186798987-186799212	K562	blood:	n/a	n/a
7	CEBPB	chr2:186819149-186819471	A549	lung:	n/a	chr2:186819279-186819290
8	CEBPB	chr2:186828894-186829050	K562	blood:	n/a	chr2:186829026-186829037
9	CEBPB	chr2:186819161-186819361	K562	blood:	n/a	chr2:186819279-186819290
10	CEBPB	chr2:186816833-186817243	Hela-S3	cervix:	n/a	chr2:186817033-186817046
11	CEBPB	chr2:186843810-186844163	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr2:186828874-186829177	A549	lung:	n/a	chr2:186829026-186829037
13	CEBPB	chr2:186799069-186799271	HepG2	liver:	n/a	chr2:186799116-186799125 chr2:186799114-186799125 chr2:186799116-186799127
14	CEBPB	chr2:186828867-186829198	HepG2	liver:	n/a	chr2:186829026-186829037
15	CEBPB	chr2:186756211-186756916	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:186819116-186819567	Hela-S3	cervix:	n/a	chr2:186819279-186819290
17	CEBPB	chr2:186819132-186819491	HepG2	liver:	n/a	chr2:186819279-186819290
18	CEBPB	chr2:186812025-186812311	HepG2	liver:	n/a	chr2:186812055-186812066
19	CEBPB	chr2:186775761-186775821	HepG2	liver:	n/a	n/a
20	CTCF	chr2:186835105-186835226	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr2:186844562-186844790	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr2:186844670-186844693	LNCaP	prostate:	n/a	n/a
23	CTCF	chr2:186819893-186819967	GM12878	blood:	n/a	n/a
24	CTCF	chr2:186819878-186820041	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr2:186844652-186844707	GM19239	blood:	n/a	n/a
26	CTCF	chr2:186819700-186819850	HMEC	breast:	n/a	n/a
27	CTCF	chr2:186819886-186819979	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:186819932-186820018	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr2:186844585-186844748	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:186844620-186844718	GM19238	blood:	n/a	n/a
31	CTCF	chr2:186802730-186802774	GM20000	blood:	n/a	n/a
32	CTCF	chr2:186844620-186844770	BE2_C	brain:	n/a	n/a
33	CTCF	chr2:186844620-186844770	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr2:186844606-186844734	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr2:186844560-186844710	SAEC	small airway:	n/a	n/a
36	CTCF	chr2:186839020-186839170	NB4	blood:	n/a	n/a
37	CTCF	chr2:186844635-186844715	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr2:186844661-186844711	GM12892	blood:	n/a	n/a
39	CTCF	chr2:186740420-186740570	HepG2	liver:	n/a	n/a
40	CTCF	chr2:186819892-186820008	LNCaP	prostate:	n/a	n/a
41	CTCF	chr2:186819849-186819999	MCF-7	breast:	n/a	n/a
42	CTCF	chr2:186844560-186844710	HMF	breast:	n/a	n/a
43	CTCF	chr2:186844560-186844710	HEK293	kidney:	n/a	n/a
44	CTCF	chr2:186820000-186820150	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr2:186819920-186820070	HMEC	breast:	n/a	n/a
46	CTCF	chr2:186819945-186820001	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr2:186844479-186844879	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:186844581-186844757	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:186783684-186783727	GM13976	blood:	n/a	n/a
50	CTCF	chr2:186783551-186783641	Lung_OC	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:186844422..186846233-chr2:187042627..187045441,2	K562	blood:
2	chr2:186778448..186780007-chr2:186782910..186785814,2	K562	blood:
3	chr2:186741175..186743547-chr2:186745596..186747466,2	K562	blood:
4	chr2:186741094..186742675-chr2:186744709..186747466,2	K562	blood:
5	chr2:186791324..186793332-chr2:186796322..186798371,2	K562	blood:
6	chr2:186760390..186763157-chr2:186764375..186766387,2	K562	blood:
7	chr2:186741094..186742675-chr2:186744709..186747466,2	K562	blood:
8	chr2:186807275..186808106-chr7:110453455..110454048,2	HCT-116	colon:
9	chr2:186741175..186743547-chr2:186745596..186747466,2	K562	blood:
10	chr2:186734702..186736953-chr2:186739550..186741965,2	MCF-7	breast:
11	chr2:186771348..186773239-chr22:46970196..46972979,2	MCF-7	breast:
12	chr2:186819232..186820505-chr2:187121247..187122132,3	MCF-7	breast:
13	chr2:186791324..186793332-chr2:186796322..186798371,2	K562	blood:
14	chr2:186760390..186763157-chr2:186764375..186766387,2	K562	blood:
15	chr2:186734702..186736953-chr2:186739550..186741965,2	MCF-7	breast:
16	chr2:186778448..186780007-chr2:186782910..186785814,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-13	chr2:186799635-186800049	NONHSAT075976
2	lnc-ZSWIM2-11	chr2:186821314-186821790	NONHSAT075979
3	lnc-ZSWIM2-4	chr2:186817485-186817647	XLOC_002427
4	lnc-ZSWIM2-12	chr2:186800286-186800551	NONHSAT075977
5	lnc-ZSWIM2-4	chr2:186815194-186815488	XLOC_002427

No data

Variant related genes	Relation type
RPL21P32	TF binding region
ENSG00000075240	chromatin interactions

Extended variants
information (count: 3443 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:3443 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545707547	chr2:186735466-186735467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75601665	chr2:186735484-186735485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545823695	chr2:186735486-186735487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557742583	chr2:186735536-186735537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573199740	chr2:186735542-186735543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139701210	chr2:186735573-186735574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561770680	chr2:186735632-186735633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529080731	chr2:186735680-186735681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544418166	chr2:186735697-186735698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74741706	chr2:186735709-186735710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533203630	chr2:186735753-186735754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551383274	chr2:186735795-186735796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566494141	chr2:186735843-186735844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549632859	chr2:186735854-186735855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190215101	chr2:186735868-186735869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115147884	chr2:186735869-186735870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369298702	chr2:186735881-186735882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72901998	chr2:186735889-186735890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182531603	chr2:186735899-186735900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144829334	chr2:186735923-186735924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4627526	chr2:186735942-186735943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565533429	chr2:186735992-186735993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549308257	chr2:186736012-186736013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4430905	chr2:186736063-186736064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572862561	chr2:186736066-186736067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77377960	chr2:186736076-186736077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562974173	chr2:186736098-186736099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79946667	chr2:186736103-186736104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551244177	chr2:186736119-186736120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13031291	chr2:186736120-186736121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186114583	chr2:186736134-186736135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544395512	chr2:186736157-186736158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139785973	chr2:186736162-186736163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13031528	chr2:186736211-186736212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190533046	chr2:186736263-186736264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114346993	chr2:186736303-186736304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555591064	chr2:186736313-186736314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560141613	chr2:186736428-186736429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200695315	chr2:186736437-186736438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527684022	chr2:186736441-186736442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549453196	chr2:186736473-186736474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144392918	chr2:186736497-186736498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78549224	chr2:186736503-186736504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77305596	chr2:186736538-186736539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77409944	chr2:186736539-186736540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78206413	chr2:186736542-186736543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550422087	chr2:186736570-186736571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183958130	chr2:186736573-186736574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146124799	chr2:186736613-186736614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551481403	chr2:186736704-186736705	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186716800-186767200	Weak transcription	Ovary	ovary
2	chr2:186739800-186740200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:186740000-186740600	Enhancers	Fetal Brain Female	brain
4	chr2:186740200-186740600	Enhancers	Fetal Brain Male	brain
5	chr2:186742600-186743200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:186744800-186745200	Enhancers	HepG2	liver
7	chr2:186745600-186756600	Weak transcription	Left Ventricle	heart
8	chr2:186755200-186757800	Enhancers	HepG2	liver
9	chr2:186755400-186759600	Weak transcription	Fetal Intestine Small	intestine
10	chr2:186756200-186758600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:186756600-186756800	Enhancers	Left Ventricle	heart
12	chr2:186756600-186757600	Enhancers	HSMMtube	muscle
13	chr2:186756800-186757000	Weak transcription	Left Ventricle	heart
14	chr2:186757200-186757800	Enhancers	Fetal Heart	heart
15	chr2:186757800-186760800	Weak transcription	HepG2	liver
16	chr2:186760800-186761600	Enhancers	HepG2	liver
17	chr2:186764200-186764800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:186764400-186764600	Enhancers	Psoas Muscle	Psoas
19	chr2:186764400-186764800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:186764600-186767600	Weak transcription	Psoas Muscle	Psoas
21	chr2:186764800-186770000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:186765400-186765800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:186765400-186766200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:186765400-186766200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:186767600-186767800	Enhancers	Psoas Muscle	Psoas
26	chr2:186767600-186768000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:186769800-186770200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:186770000-186770200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:186770000-186770400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:186784200-186809400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:186785600-186786200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:186785600-186786400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr2:186785600-186786400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:186785800-186786200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:186785800-186786400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:186786400-186789400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:186789400-186789800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:186791400-186791600	ZNF genes & repeats	Pancreas	Pancrea
39	chr2:186791600-186810000	Weak transcription	Pancreas	Pancrea
40	chr2:186806600-186807600	Weak transcription	Left Ventricle	heart
41	chr2:186806800-186809400	Weak transcription	Fetal Intestine Large	intestine
42	chr2:186807200-186810400	ZNF genes & repeats	Liver	Liver
43	chr2:186807600-186809000	ZNF genes & repeats	Left Ventricle	heart
44	chr2:186808200-186808400	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr2:186808600-186809000	Weak transcription	Adipose Nuclei	Adipose
46	chr2:186808800-186809200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
47	chr2:186808800-186809600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:186809000-186815200	Weak transcription	Left Ventricle	heart
49	chr2:186809200-186813200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:186809400-186809800	ZNF genes & repeats	Fetal Intestine Large	intestine

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