Variant report

Variant	nsv471418
Chromosome Location	chr2:74011316-74044274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:640)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:74040158-74040429	K562	blood:	n/a	n/a
2	BATF	chr2:74011141-74011519	GM12878	blood:	n/a	n/a
3	BATF	chr2:74016935-74017230	GM12878	blood:	n/a	n/a
4	BATF	chr2:74020939-74021295	GM12878	blood:	n/a	n/a
5	BATF	chr2:74011334-74011570	GM12878	blood:	n/a	n/a
6	BATF	chr2:74012103-74012308	GM12878	blood:	n/a	n/a
7	BATF	chr2:74021832-74022127	GM12878	blood:	n/a	n/a
8	BATF	chr2:74031630-74031925	GM12878	blood:	n/a	n/a
9	BATF	chr2:74030737-74031093	GM12878	blood:	n/a	n/a
10	BATF	chr2:74012316-74012516	GM12878	blood:	n/a	n/a
11	BATF	chr2:74027012-74027212	GM12878	blood:	n/a	n/a
12	BATF	chr2:74031912-74032112	GM12878	blood:	n/a	n/a
13	BATF	chr2:74026730-74027025	GM12878	blood:	n/a	n/a
14	BATF	chr2:74036598-74036799	GM12878	blood:	n/a	n/a
15	BATF	chr2:74022114-74022314	GM12878	blood:	n/a	n/a
16	BATF	chr2:74016042-74016398	GM12878	blood:	n/a	n/a
17	BATF	chr2:74017217-74017417	GM12878	blood:	n/a	n/a
18	BATF	chr2:74035636-74036014	GM12878	blood:	n/a	n/a
19	BATF	chr2:74025837-74026193	GM12878	blood:	n/a	n/a
20	BCL11A	chr2:74035780-74036074	GM12878	blood:	n/a	n/a
21	BCL11A	chr2:74024732-74024975	GM12878	blood:	n/a	n/a
22	BCL11A	chr2:74021000-74021193	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:74016103-74016296	GM12878	blood:	n/a	n/a
24	BCL11A	chr2:74011201-74011579	GM12878	blood:	n/a	n/a
25	BCL11A	chr2:74021083-74021430	GM12878	blood:	n/a	n/a
26	BCL11A	chr2:74014937-74015180	GM12878	blood:	n/a	n/a
27	BCL11A	chr2:74012160-74012430	GM12878	blood:	n/a	n/a
28	BCL11A	chr2:74030881-74031228	GM12878	blood:	n/a	n/a
29	BCL11A	chr2:74016186-74016533	GM12878	blood:	n/a	n/a
30	BCL11A	chr2:74025981-74026328	GM12878	blood:	n/a	n/a
31	BCL11A	chr2:74025898-74026091	GM12878	blood:	n/a	n/a
32	BCL11A	chr2:74019834-74020077	GM12878	blood:	n/a	n/a
33	BCL11A	chr2:74030798-74030991	GM12878	blood:	n/a	n/a
34	BHLHE40	chr2:74014743-74014965	HepG2	liver:	n/a	n/a
35	BHLHE40	chr2:74029434-74029671	HepG2	liver:	n/a	n/a
36	BHLHE40	chr2:74019640-74019862	HepG2	liver:	n/a	n/a
37	BHLHE40	chr2:74024538-74024760	HepG2	liver:	n/a	n/a
38	BHLHE40	chr2:74034334-74034571	HepG2	liver:	n/a	n/a
39	CTCF	chr2:74037394-74037472	GM13976	blood:	n/a	n/a
40	CTCF	chr2:74036098-74036178	GM10248	blood:	n/a	n/a
41	EBF1	chr2:74011309-74011503	GM12878	blood:	n/a	n/a
42	EBF1	chr2:74021107-74021334	GM12878	blood:	n/a	n/a
43	EBF1	chr2:74011089-74011368	GM12878	blood:	n/a	n/a
44	EBF1	chr2:74025802-74025996	GM12878	blood:	n/a	n/a
45	EBF1	chr2:74035584-74035849	GM12878	blood:	n/a	n/a
46	EBF1	chr2:74030702-74030896	GM12878	blood:	n/a	n/a
47	EBF1	chr2:74025785-74026064	GM12878	blood:	n/a	n/a
48	EBF1	chr2:74030685-74030964	GM12878	blood:	n/a	n/a
49	EBF1	chr2:74030905-74031132	GM12878	blood:	n/a	n/a
50	EBF1	chr2:74020904-74021098	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74043282-74043332	T-47D	breast:	n/a
2	chr2:74043282-74043332	MCF-7	breast:	n/a
3	chr2:74043282-74043332	HL-60	blood:	n/a
4	chr2:74043282-74043332	NB4	blood:	n/a
5	chr2:74043282-74043332	HRPEpiC	eye:	n/a
6	chr2:74043282-74043332	HRE	kidney:	n/a
7	chr2:74043282-74043332	HIPEpiC	eye:	n/a
8	chr2:74043282-74043332	SKMC	muscle:	n/a
9	chr2:74043282-74043332	A549	lung:	n/a
10	chr2:74043282-74043332	HEK293	kidney:	embryo
11	chr2:74043282-74043332	CMK	blood:	n/a
12	chr2:74043282-74043332	AG09319	gingival:	n/a
13	chr2:74043282-74043332	NH-A	brain:	n/a
14	chr2:74043282-74043332	PFSK-1	brain:	n/a
15	chr2:74043282-74043332	HNPCEpiC	eye:	n/a
16	chr2:74043282-74043332	NHDF-neo	bronchial:	n/a
17	chr2:74043282-74043332	Hela-S3	cervix:	n/a
18	chr2:74043282-74043332	BE2_C	brain:	n/a
19	chr2:74043282-74043332	HUVEC	blood vessel:	n/a
20	chr2:74043282-74043332	Jurkat	blood:	n/a
21	chr2:74043282-74043332	U87	brain:	n/a
22	chr2:74043282-74043332	SK-N-SH	brain:	n/a
23	chr2:74043282-74043332	SK-N-MC	brain:	n/a
24	chr2:74043282-74043332	GM19239	blood:	n/a
25	chr2:74043282-74043332	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:74043282-74043332	SK-N-SH_RA	brain:	n/a
27	chr2:74043282-74043332	HEEpiC	esophagus:	n/a
28	chr2:74043282-74043332	MCF10A-Er-Src	breast:	n/a
29	chr2:74043282-74043332	HRCEpiC	kidney:	n/a
30	chr2:74043282-74043332	LNCaP	prostate:	n/a
31	chr2:74043282-74043332	Hepatocyte	liver:	n/a
32	chr2:74043282-74043332	HCF	heart:	n/a
33	chr2:74043282-74043332	GM06990	blood:	n/a
34	chr2:74043282-74043332	HepG2	liver:	n/a
35	chr2:74043282-74043332	AG09309	skin:	n/a
36	chr2:74043282-74043332	HCT-116	colon:	n/a
37	chr2:74043282-74043332	AoSMC	blood vessel:	n/a
38	chr2:74043282-74043332	HCPEpiC	choroid plexus:	n/a
39	chr2:74043282-74043332	ProgFib	skin:	n/a
40	chr2:74043282-74043332	GM12892	blood:	n/a
41	chr2:74043282-74043332	PANC-1	pancreas:	n/a
42	chr2:74043282-74043332	Caco-2	colon:	n/a
43	chr2:74043282-74043332	K562	blood:	n/a
44	chr2:74043282-74043332	RPTEC	kidney:	n/a
45	chr2:74043282-74043332	NHBE	bronchial:	n/a
46	chr2:74043282-74043332	NT2-D1	testis:	n/a
47	chr2:74043282-74043332	H1-hESC	embryonic stem cell:	embryo
48	chr2:74043282-74043332	GM12891	blood:	n/a
49	chr2:74043282-74043332	SAEC	small airway:	n/a
50	chr2:74043282-74043332	HAEpiC	amniotic membrane:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74040722..74043858-chr2:74049406..74052392,4	K562	blood:
2	chr2:74042403..74045656-chr2:74372665..74376005,3	K562	blood:
3	chr2:74040863..74045251-chr2:74049406..74052503,5	K562	blood:
4	chr2:74039040..74040674-chr2:74053917..74056106,2	K562	blood:
5	chr2:74038622..74040472-chr2:74041607..74044081,2	K562	blood:
6	chr2:74038622..74040633-chr2:74042512..74044081,2	K562	blood:
7	chr2:74043120..74045341-chr2:74054573..74057478,2	MCF-7	breast:
8	chr2:74038622..74040633-chr2:74042512..74044081,2	K562	blood:
9	chr2:74043930..74046271-chr2:74049022..74051900,2	K562	blood:
10	chr2:74038622..74040472-chr2:74041607..74044081,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STAMBP-3	chr2:74028839-74029096	expReg_chr2_5950_+

No data

Variant related genes	Relation type
C2orf78	TF binding region
DUSP11	TF binding region
C2orf78	CpG island
DUSP11	CpG island
ENSG00000124356	chromatin interactions
ENSG00000225439	chromatin interactions
ENSG00000163170	chromatin interactions

Extended variants
information (count: 267 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:267 , 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	rs574215119	chr2:74011320-74011321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs544376139	chr2:74011324-74011325	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs562595304	chr2:74011325-74011326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139705863	chr2:74011330-74011331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs544965391	chr2:74011359-74011360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs560133836	chr2:74011591-74011592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs113036273	chr2:74011592-74011593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs113171742	chr2:74011599-74011600	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs528350621	chr2:74011627-74011628	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201344049	chr2:74011635-74011636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs568160500	chr2:74011661-74011662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs188729159	chr2:74011688-74011689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs529040698	chr2:74011730-74011731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs550807358	chr2:74011763-74011764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs181377302	chr2:74011784-74011785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs568938347	chr2:74011820-74011821	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539561532	chr2:74011962-74011963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs547919804	chr2:74011963-74011964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs557765294	chr2:74011983-74011984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs566498938	chr2:74011989-74011990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs376864375	chr2:74012196-74012197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs369568166	chr2:74012268-74012269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs386647358	chr2:74012284-74012285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187970689	chr2:74035025-74035026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192395974	chr2:74035030-74035031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13383097	chr2:74035031-74035032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs572316354	chr2:74035060-74035061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542425295	chr2:74035092-74035093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554365913	chr2:74035102-74035103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375420940	chr2:74035107-74035108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184837279	chr2:74035108-74035109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141285925	chr2:74035111-74035112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143299722	chr2:74035120-74035121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532060139	chr2:74035132-74035133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541025527	chr2:74035134-74035135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529306683	chr2:74035146-74035147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559753503	chr2:74035154-74035155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547907566	chr2:74035163-74035164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189268459	chr2:74035182-74035183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181578987	chr2:74035188-74035189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531009903	chr2:74035189-74035190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375557823	chr2:74036822-74036823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539181153	chr2:74036857-74036858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568127481	chr2:74036862-74036863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182904336	chr2:74036884-74036885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556981323	chr2:74036887-74036888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144141588	chr2:74036892-74036893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147295226	chr2:74036938-74036939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558385146	chr2:74036940-74036941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140948454	chr2:74036945-74036946	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74035000-74035200	Enhancers	GM12878-XiMat	blood
2	chr2:74036800-74037400	Enhancers	GM12878-XiMat	blood
3	chr2:74039600-74040600	Enhancers	Fetal Intestine Small	intestine
4	chr2:74039600-74040600	Enhancers	HepG2	liver
5	chr2:74039600-74040800	Enhancers	Liver	Liver
6	chr2:74039600-74040800	Enhancers	Fetal Intestine Large	intestine
7	chr2:74039600-74041600	Enhancers	K562	blood
8	chr2:74040200-74040400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:74040200-74040600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:74043600-74044000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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