Variant report

Variant	nsv584025
Chromosome Location	chr2:186809595-186865606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:277)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:186853506-186853842	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:186835223-186835544	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:186855637-186856004	HepG2	liver:	n/a	n/a
4	BACH1	chr2:186855743-186855846	H1-hESC	embryonic stem cell:	n/a	n/a
5	CBX3	chr2:186836912-186837170	K562	blood:	n/a	n/a
6	CEBPB	chr2:186861384-186861537	HepG2	liver:	n/a	chr2:186861485-186861496
7	CEBPB	chr2:186819149-186819471	A549	lung:	n/a	chr2:186819279-186819290
8	CEBPB	chr2:186863425-186863774	A549	lung:	n/a	chr2:186863590-186863601
9	CEBPB	chr2:186828894-186829050	K562	blood:	n/a	chr2:186829026-186829037
10	CEBPB	chr2:186863427-186863776	IMR90	lung:	n/a	chr2:186863590-186863601
11	CEBPB	chr2:186816833-186817243	Hela-S3	cervix:	n/a	chr2:186817033-186817046
12	CEBPB	chr2:186819116-186819567	Hela-S3	cervix:	n/a	chr2:186819279-186819290
13	CEBPB	chr2:186843810-186844163	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr2:186819161-186819361	K562	blood:	n/a	chr2:186819279-186819290
15	CEBPB	chr2:186819132-186819491	HepG2	liver:	n/a	chr2:186819279-186819290
16	CEBPB	chr2:186812025-186812311	HepG2	liver:	n/a	chr2:186812055-186812066
17	CEBPB	chr2:186828874-186829177	A549	lung:	n/a	chr2:186829026-186829037
18	CEBPB	chr2:186828867-186829198	HepG2	liver:	n/a	chr2:186829026-186829037
19	CEBPB	chr2:186863413-186863783	HepG2	liver:	n/a	chr2:186863590-186863601
20	CEBPB	chr2:186863446-186863745	Hela-S3	cervix:	n/a	chr2:186863590-186863601
21	CEBPB	chr2:186853669-186853919	HepG2	liver:	n/a	n/a
22	CTCF	chr2:186819934-186819989	GM10266	blood:	n/a	n/a
23	CTCF	chr2:186844585-186844748	MCF-7	breast:	n/a	n/a
24	CTCF	chr2:186844660-186844810	SAEC	small airway:	n/a	n/a
25	CTCF	chr2:186844560-186844710	SAEC	small airway:	n/a	n/a
26	CTCF	chr2:186819912-186819991	GM10248	blood:	n/a	n/a
27	CTCF	chr2:186819865-186820007	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr2:186844540-186844690	RPTEC	kidney:	n/a	n/a
29	CTCF	chr2:186844562-186844790	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr2:186844635-186844715	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr2:186844600-186844750	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr2:186819889-186819994	HepG2	liver:	n/a	n/a
33	CTCF	chr2:186819920-186820070	HMEC	breast:	n/a	n/a
34	CTCF	chr2:186819849-186819999	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:186819945-186820001	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr2:186819883-186820029	Medullo	brain:	n/a	n/a
37	CTCF	chr2:186844561-186844776	NHEK	skin:	n/a	n/a
38	CTCF	chr2:186819932-186820018	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr2:186839020-186839170	NB4	blood:	n/a	n/a
40	CTCF	chr2:186819892-186820008	LNCaP	prostate:	n/a	n/a
41	CTCF	chr2:186844560-186844710	HEK293	kidney:	n/a	n/a
42	CTCF	chr2:186844600-186844750	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr2:186819840-186819990	HMF	breast:	n/a	n/a
44	CTCF	chr2:186844629-186844726	GM12878	blood:	n/a	n/a
45	CTCF	chr2:186819980-186820130	HMEC	breast:	n/a	n/a
46	CTCF	chr2:186844560-186844710	HMF	breast:	n/a	n/a
47	CTCF	chr2:186844660-186844810	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr2:186844620-186844770	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:186844598-186844720	Gliobla	brain:	n/a	n/a
50	CTCF	chr2:186844620-186844770	BE2_C	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:
2	chr2:186851763..186854059-chr2:186854208..186855953,2	MCF-7	breast:
3	chr2:186844422..186846233-chr2:187042627..187045441,2	K562	blood:
4	chr2:186861297..186864828-chr2:186866334..186869154,3	K562	blood:
5	chr2:186819232..186820505-chr2:187121247..187122132,3	MCF-7	breast:
6	chr17:57913762..57915412-chr2:186861621..186864023,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-4	chr2:186817485-186817647	XLOC_002427
2	lnc-ZSWIM2-11	chr2:186821314-186821790	NONHSAT075979
3	lnc-ZSWIM2-4	chr2:186815194-186815488	XLOC_002427

No data

Variant related genes	Relation type
RPL21P32	TF binding region
ENSG00000062716	chromatin interactions

Extended variants
information (count: 1979 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:1979 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10196671	chr2:186809595-186809596	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533423274	chr2:186809598-186809599	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545172246	chr2:186809715-186809716	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187329970	chr2:186809717-186809718	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564858944	chr2:186809718-186809719	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528259297	chr2:186809741-186809742	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546421045	chr2:186809742-186809743	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570834529	chr2:186809796-186809797	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145720098	chr2:186809806-186809807	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529193061	chr2:186809830-186809831	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537802510	chr2:186809860-186809861	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72905952	chr2:186809912-186809913	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs189877830	chr2:186809924-186809925	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1601727	chr2:186809971-186809972	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551493568	chr2:186809987-186809988	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543106358	chr2:186810018-186810019	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566606725	chr2:186810090-186810091	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182191277	chr2:186810114-186810115	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534368708	chr2:186810145-186810146	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556018323	chr2:186810152-186810153	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574239520	chr2:186810161-186810162	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568257941	chr2:186810200-186810201	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538164467	chr2:186810206-186810207	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556474106	chr2:186810220-186810221	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs577952371	chr2:186810255-186810256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs72905954	chr2:186810256-186810257	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs560195450	chr2:186810543-186810544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13392430	chr2:186810571-186810572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186469895	chr2:186810599-186810600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561557751	chr2:186810603-186810604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529142088	chr2:186810626-186810627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10206144	chr2:186810659-186810660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540672444	chr2:186810679-186810680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562842660	chr2:186810722-186810723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532775745	chr2:186810732-186810733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551424739	chr2:186810743-186810744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35029506	chr2:186810755-186810756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190136492	chr2:186810764-186810765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183129745	chr2:186810785-186810786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145645315	chr2:186810792-186810793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113485312	chr2:186810833-186810834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113923194	chr2:186810834-186810835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59580412	chr2:186810854-186810855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371341890	chr2:186810873-186810874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549557804	chr2:186810875-186810876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567761238	chr2:186810887-186810888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10206262	chr2:186810931-186810932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556568029	chr2:186810936-186810937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13427206	chr2:186810946-186810947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538624131	chr2:186810966-186810967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186791600-186810000	Weak transcription	Pancreas	Pancrea
2	chr2:186807200-186810400	ZNF genes & repeats	Liver	Liver
3	chr2:186808800-186809600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:186809000-186815200	Weak transcription	Left Ventricle	heart
5	chr2:186809200-186813200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:186809400-186809800	ZNF genes & repeats	Fetal Intestine Large	intestine
7	chr2:186809400-186810200	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:186809600-186810400	Weak transcription	Adipose Nuclei	Adipose
9	chr2:186809800-186816800	Weak transcription	Fetal Intestine Large	intestine
10	chr2:186810000-186810200	ZNF genes & repeats	Ovary	ovary
11	chr2:186810000-186810200	ZNF genes & repeats	Pancreas	Pancrea
12	chr2:186810200-186813000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:186810200-186828000	Weak transcription	Ovary	ovary
14	chr2:186810400-186814400	Weak transcription	Liver	Liver
15	chr2:186815000-186827800	Weak transcription	Aorta	Aorta
16	chr2:186815200-186815600	Strong transcription	Left Ventricle	heart
17	chr2:186815600-186833800	Weak transcription	Left Ventricle	heart
18	chr2:186816600-186817000	Enhancers	Hela-S3	cervix
19	chr2:186821000-186821800	Enhancers	Fetal Brain Male	brain
20	chr2:186827800-186828400	ZNF genes & repeats	Aorta	Aorta
21	chr2:186828000-186828200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr2:186828000-186828800	Strong transcription	Ovary	ovary
23	chr2:186828200-186836800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:186828400-186857400	Weak transcription	Aorta	Aorta
25	chr2:186828800-186867400	Weak transcription	Ovary	ovary
26	chr2:186830600-186831400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:186831400-186834800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:186832400-186834000	Weak transcription	Fetal Intestine Small	intestine
29	chr2:186833000-186834000	Weak transcription	Fetal Intestine Large	intestine
30	chr2:186834000-186834400	Enhancers	Fetal Intestine Small	intestine
31	chr2:186834000-186836000	Enhancers	Fetal Intestine Large	intestine
32	chr2:186834400-186834600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:186834600-186836200	Enhancers	Fetal Intestine Small	intestine
34	chr2:186834800-186835000	Enhancers	Duodenum Mucosa	Duodenum
35	chr2:186834800-186835600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:186834800-186835600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:186834800-186835800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:186834800-186835800	Enhancers	NHEK	skin
39	chr2:186835000-186835600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:186835000-186835600	Enhancers	Pancreas	Pancrea
41	chr2:186835000-186835800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:186835000-186835800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:186835000-186835800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:186835000-186835800	Enhancers	Fetal Kidney	kidney
45	chr2:186835000-186835800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr2:186835000-186835800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr2:186835000-186835800	Enhancers	Stomach Mucosa	stomach
48	chr2:186835000-186835800	Enhancers	HepG2	liver
49	chr2:186835200-186835600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:186835200-186835600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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