Variant report

Variant	nsv1014807
Chromosome Location	chr2:184123737-184181052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:419)
CpG islands
(count:489)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:184159890-184160247	K562	blood:	n/a	n/a
2	BATF	chr2:184132208-184132486	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:184156845-184157041	H1-hESC	embryonic stem cell:	n/a	chr2:184156900-184156907
4	BCL11A	chr2:184131922-184132193	GM12878	blood:	n/a	chr2:184132087-184132096
5	BCL11A	chr2:184131912-184132157	GM12878	blood:	n/a	chr2:184132087-184132096
6	BHLHE40	chr2:184159850-184160092	K562	blood:	n/a	n/a
7	CBX3	chr2:184180086-184180765	HCT-116	colon:	n/a	n/a
8	CBX3	chr2:184180174-184180777	HCT-116	colon:	n/a	n/a
9	CBX3	chr2:184180916-184181469	HCT-116	colon:	n/a	n/a
10	CEBPB	chr2:184136423-184136637	HepG2	liver:	n/a	chr2:184136495-184136506
11	CEBPB	chr2:184180092-184180722	HCT-116	colon:	n/a	n/a
12	CEBPB	chr2:184147986-184148186	A549	lung:	n/a	n/a
13	CEBPB	chr2:184144455-184144644	HepG2	liver:	n/a	chr2:184144493-184144504
14	CEBPB	chr2:184133169-184133185	K562	blood:	n/a	n/a
15	CHD2	chr2:184124594-184124617	GM12878	blood:	n/a	n/a
16	CTCF	chr2:184159880-184160030	NB4	blood:	n/a	n/a
17	CTCF	chr2:184159745-184160177	HepG2	liver:	n/a	n/a
18	CTCF	chr2:184159900-184160050	GM12801	blood:	n/a	n/a
19	CTCF	chr2:184159940-184160090	GM12870	blood:	n/a	n/a
20	CTCF	chr2:184173817-184173846	GM10248	blood:	n/a	n/a
21	CTCF	chr2:184159809-184160103	NHEK	skin:	n/a	n/a
22	CTCF	chr2:184159829-184160098	ProgFib	skin:	n/a	n/a
23	CTCF	chr2:184159880-184160030	HMF	breast:	n/a	n/a
24	CTCF	chr2:184159860-184160010	GM12878	blood:	n/a	n/a
25	CTCF	chr2:184128383-184128493	K562	blood:	n/a	chr2:184128421-184128442 chr2:184128426-184128444
26	CTCF	chr2:184159880-184160030	AG04449	skin:	n/a	n/a
27	CTCF	chr2:184159880-184160030	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr2:184159839-184160085	GM19240	blood:	n/a	n/a
29	CTCF	chr2:184159860-184160010	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr2:184159819-184160088	GM12878	blood:	n/a	n/a
31	CTCF	chr2:184159876-184160023	GM13976	blood:	n/a	n/a
32	CTCF	chr2:184159833-184160059	GM10248	blood:	n/a	n/a
33	CTCF	chr2:184159840-184159990	BJ	skin:	n/a	n/a
34	CTCF	chr2:184159860-184160010	HRE	kidney:	n/a	n/a
35	CTCF	chr2:184159751-184160124	K562	blood:	n/a	n/a
36	CTCF	chr2:184160167-184160183	Gliobla	brain:	n/a	n/a
37	CTCF	chr2:184159814-184160123	Fibrobl	skin:	n/a	n/a
38	CTCF	chr2:184159835-184160086	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr2:184128420-184128570	HEK293	kidney:	n/a	chr2:184128421-184128442 chr2:184128426-184128444
40	CTCF	chr2:184159840-184159990	NHEK	skin:	n/a	n/a
41	CTCF	chr2:184159837-184160073	GM10266	blood:	n/a	n/a
42	CTCF	chr2:184159860-184160010	AG09319	gingival:	n/a	n/a
43	CTCF	chr2:184159878-184160023	GM20000	blood:	n/a	n/a
44	CTCF	chr2:184159820-184159970	AG04450	lung:	n/a	n/a
45	CTCF	chr2:184159815-184160134	GM12892	blood:	n/a	n/a
46	CTCF	chr2:184159840-184159990	GM12868	blood:	n/a	n/a
47	CTCF	chr2:184159880-184160030	GM12865	blood:	n/a	n/a
48	CTCF	chr2:184158232-184158298	K562	blood:	n/a	n/a
49	CTCF	chr2:184159860-184160010	GM12867	blood:	n/a	n/a
50	CTCF	chr2:184159778-184160168	K562	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:184126810-184126860	A549	lung:	n/a
2	chr2:184126810-184126860	A549	lung:	n/a
3	chr2:184125555-184125605	AoSMC	blood vessel:	n/a
4	chr2:184123747-184123797	HRPEpiC	eye:	n/a
5	chr2:184123747-184123797	HUVEC	blood vessel:	n/a
6	chr2:184125416-184125466	AG09309	skin:	n/a
7	chr2:184125517-184125567	HNPCEpiC	eye:	n/a
8	chr2:184123747-184123797	HCM	heart:	n/a
9	chr2:184125416-184125466	Hela-S3	cervix:	n/a
10	chr2:184125416-184125466	RPTEC	kidney:	n/a
11	chr2:184123747-184123797	GM12891	blood:	n/a
12	chr2:184125440-184125490	LNCaP	prostate:	n/a
13	chr2:184126810-184126860	HCM	heart:	n/a
14	chr2:184123747-184123797	HEK293	kidney:	embryo
15	chr2:184128621-184128671	HMEC	breast:	n/a
16	chr2:184125517-184125567	PrEC	prostate:	n/a
17	chr2:184125440-184125490	SK-N-SH_RA	brain:	n/a
18	chr2:184125416-184125466	AG10803	skin:	n/a
19	chr2:184128621-184128671	AG09319	gingival:	n/a
20	chr2:184128621-184128671	HCT-116	colon:	n/a
21	chr2:184125555-184125605	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:184125555-184125605	PFSK-1	brain:	n/a
23	chr2:184125440-184125490	HRE	kidney:	n/a
24	chr2:184126810-184126860	MCF10A-Er-Src	breast:	n/a
25	chr2:184125352-184125402	NH-A	brain:	n/a
26	chr2:184125555-184125605	Caco-2	colon:	n/a
27	chr2:184125352-184125402	CMK	blood:	n/a
28	chr2:184125440-184125490	SK-N-MC	brain:	n/a
29	chr2:184125440-184125490	HEEpiC	esophagus:	n/a
30	chr2:184125416-184125466	NH-A	brain:	n/a
31	chr2:184125440-184125490	BE2_C	brain:	n/a
32	chr2:184125555-184125605	HRCEpiC	kidney:	n/a
33	chr2:184128621-184128671	BE2_C	brain:	n/a
34	chr2:184125416-184125466	U87	brain:	n/a
35	chr2:184125517-184125567	GM12878	blood:	n/a
36	chr2:184125440-184125490	HRCEpiC	kidney:	n/a
37	chr2:184125416-184125466	HIPEpiC	eye:	n/a
38	chr2:184125352-184125402	HCM	heart:	n/a
39	chr2:184125416-184125466	AG04450	lung:	fetal
40	chr2:184125440-184125490	AG09309	skin:	n/a
41	chr2:184125416-184125466	GM19239	blood:	n/a
42	chr2:184123747-184123797	RPTEC	kidney:	n/a
43	chr2:184125517-184125567	SAEC	small airway:	n/a
44	chr2:184125517-184125567	Hela-S3	cervix:	n/a
45	chr2:184125416-184125466	PrEC	prostate:	n/a
46	chr2:184123747-184123797	Jurkat	blood:	n/a
47	chr2:184126810-184126860	GM19239	blood:	n/a
48	chr2:184125416-184125466	SKMC	muscle:	n/a
49	chr2:184126810-184126860	GM12892	blood:	n/a
50	chr2:184125517-184125567	U87	brain:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:184167829..184169684-chr2:184179088..184180846,2	MCF-7	breast:
2	chr2:184179313..184181049-chr2:184186553..184189132,2	K562	blood:
3	chr2:184116987..184119368-chr2:184122248..184124621,2	MCF-7	breast:
4	chr2:183948375..183950437-chr2:184166143..184169030,2	K562	blood:
5	chr2:184165588..184168324-chr2:184170867..184172484,2	K562	blood:
6	chr2:184165588..184168324-chr2:184170867..184172484,2	K562	blood:
7	chr2:184143479..184145857-chr2:184146723..184149568,2	K562	blood:
8	chr2:184167829..184169684-chr2:184179088..184180846,2	MCF-7	breast:
9	chr2:184143479..184145857-chr2:184146723..184149568,2	K562	blood:

No data

Variant related genes	Relation type
LIN28AP1	TF binding region
LIN28AP1	CpG island

Extended variants
information (count: 2316 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:2316 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191782671	chr2:184123737-184123738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570984428	chr2:184123738-184123739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539677138	chr2:184123739-184123740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73042788	chr2:184123796-184123797	Enhancers	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs570201454	chr2:184123856-184123857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576348025	chr2:184123911-184123912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74886714	chr2:184123916-184123917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555987047	chr2:184123921-184123922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138766769	chr2:184123940-184123941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376331143	chr2:184123983-184123984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530510842	chr2:184124002-184124003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558311536	chr2:184124017-184124018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578133746	chr2:184124079-184124080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370379503	chr2:184124095-184124096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550204926	chr2:184124113-184124114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183213470	chr2:184124114-184124115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112868803	chr2:184124159-184124160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532853144	chr2:184124236-184124237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573738147	chr2:184124240-184124241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1462522	chr2:184124261-184124262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559594951	chr2:184124274-184124275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528103030	chr2:184124277-184124278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202232317	chr2:184124290-184124291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200212213	chr2:184124291-184124292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs68116754	chr2:184124292-184124293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4018671	chr2:184124293-184124294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112849367	chr2:184124302-184124303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564503681	chr2:184124316-184124317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530540014	chr2:184124335-184124336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532573528	chr2:184124348-184124349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566285801	chr2:184124356-184124357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186109583	chr2:184124386-184124387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527285914	chr2:184124444-184124445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570166859	chr2:184124451-184124452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536040968	chr2:184124474-184124475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371040669	chr2:184124505-184124506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141819029	chr2:184124522-184124523	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs114997964	chr2:184124539-184124540	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs114126074	chr2:184124585-184124586	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs571641446	chr2:184124694-184124695	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs375515612	chr2:184124744-184124745	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs547551592	chr2:184124749-184124750	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs548748208	chr2:184124817-184124818	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs190904766	chr2:184124850-184124851	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs568612117	chr2:184124853-184124854	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs10931071	chr2:184124863-184124864	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs553025845	chr2:184124886-184124887	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs10609052	chr2:184124923-184124924	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs398090919	chr2:184124925-184124926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs372837839	chr2:184124939-184124940	Weak transcription	TF binding region	1 gene(s)	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
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
low-grade B-cell lymphoma tumor	18367492	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
Breast cancer	22522925	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184123000-184123800	Enhancers	H1 Cell Line	embryonic stem cell
2	chr2:184123000-184123800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:184123000-184123800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:184123000-184123800	Enhancers	Brain Substantia Nigra	brain
5	chr2:184123000-184124200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:184123200-184123800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:184123200-184123800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:184123200-184124000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:184123800-184126600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:184128400-184128600	Enhancers	Spleen	Spleen
11	chr2:184128600-184132400	Weak transcription	Spleen	Spleen
12	chr2:184130000-184130200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:184131600-184132600	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:184131800-184147600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:184132000-184132600	Enhancers	GM12878-XiMat	blood
16	chr2:184132400-184132600	Enhancers	Spleen	Spleen
17	chr2:184134400-184134800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:184134400-184135400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:184140000-184140200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:184140200-184140600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:184140800-184141000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:184142200-184158400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:184146400-184147000	Enhancers	NHEK	skin
24	chr2:184146800-184149000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:184147000-184147600	Weak transcription	NHEK	skin
26	chr2:184147600-184148000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:184147600-184148000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr2:184147600-184148600	ZNF genes & repeats	NHEK	skin
29	chr2:184147600-184150800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:184147800-184149800	Enhancers	HMEC	breast
31	chr2:184148600-184149000	Weak transcription	NHEK	skin
32	chr2:184148800-184149400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:184148800-184149400	Enhancers	Placenta	Placenta
34	chr2:184149000-184149400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:184149000-184149400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
36	chr2:184149000-184149800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:184149000-184151400	Enhancers	NHEK	skin
38	chr2:184149200-184149800	Enhancers	HSMM	muscle
39	chr2:184149200-184149800	Enhancers	Osteobl	bone
40	chr2:184149200-184150600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:184149400-184149800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:184149400-184149800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:184149400-184149800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:184149400-184149800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:184149400-184150000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:184149600-184150600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:184149600-184150800	Enhancers	NHDF-Ad	bronchial
48	chr2:184149800-184150200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:184149800-184150200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr2:184149800-184150200	Flanking Active TSS	HMEC	breast

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