Variant report

Variant	nsv583951
Chromosome Location	chr2:184121475-184142975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:549)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:184132208-184132486	GM12878	blood:	n/a	n/a
2	BCL11A	chr2:184131912-184132157	GM12878	blood:	n/a	chr2:184132087-184132096
3	BCL11A	chr2:184131922-184132193	GM12878	blood:	n/a	chr2:184132087-184132096
4	CEBPB	chr2:184133169-184133185	K562	blood:	n/a	n/a
5	CEBPB	chr2:184136423-184136637	HepG2	liver:	n/a	chr2:184136495-184136506
6	CHD2	chr2:184124594-184124617	GM12878	blood:	n/a	n/a
7	CTCF	chr2:184128280-184128430	K562	blood:	n/a	n/a
8	CTCF	chr2:184128420-184128570	HEK293	kidney:	n/a	chr2:184128421-184128442 chr2:184128426-184128444
9	CTCF	chr2:184128383-184128493	K562	blood:	n/a	chr2:184128421-184128442 chr2:184128426-184128444
10	CTCF	chr2:184132555-184132583	GM20000	blood:	n/a	n/a
11	CTCF	chr2:184128277-184128619	K562	blood:	n/a	chr2:184128421-184128442 chr2:184128426-184128444
12	CTCF	chr2:184130500-184130538	Medullo	brain:	n/a	n/a
13	E2F4	chr2:184134432-184134616	MCF10A-Er-Src	breast:	n/a	n/a
14	EBF1	chr2:184131875-184132132	GM12878	blood:	n/a	n/a
15	EBF1	chr2:184132184-184132505	GM12878	blood:	n/a	n/a
16	EBF1	chr2:184132254-184132506	GM12878	blood:	n/a	n/a
17	EP300	chr2:184134453-184134574	K562	blood:	n/a	n/a
18	GATA3	chr2:184140012-184140177	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr2:184131392-184131465	SH-SY5Y	brain:	n/a	n/a
20	MAFK	chr2:184137622-184137803	HepG2	liver:	n/a	n/a
21	MAX	chr2:184130996-184131141	NB4	blood:	n/a	n/a
22	MYC	chr2:184125517-184125524	MCF-7	breast:	n/a	n/a
23	POLR2A	chr2:184125500-184125686	Gliobla	brain:	n/a	n/a
24	POLR2A	chr2:184125699-184125710	MCF-7	breast:	n/a	n/a
25	POLR2A	chr2:184129837-184129842	MCF-7	breast:	n/a	n/a
26	POLR2A	chr2:184138410-184138525	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr2:184125479-184125543	A549	lung:	n/a	n/a
28	POLR2A	chr2:184125684-184125699	A549	lung:	n/a	n/a
29	POLR2A	chr2:184125418-184125500	MCF-7	breast:	n/a	n/a
30	POLR2A	chr2:184125520-184125694	MCF-7	breast:	n/a	n/a
31	POLR2A	chr2:184125675-184125676	A549	lung:	n/a	n/a
32	POLR2A	chr2:184129890-184129942	MCF-7	breast:	n/a	n/a
33	POLR2A	chr2:184124515-184124695	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr2:184129761-184129800	MCF-7	breast:	n/a	n/a
35	RAD21	chr2:184128223-184128673	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr2:184128305-184128523	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr2:184128364-184128484	K562	blood:	n/a	n/a
38	RAD21	chr2:184128264-184128519	H1-hESC	embryonic stem cell:	n/a	n/a
39	REST	chr2:184131994-184132146	Hela-S3	cervix:	n/a	n/a
40	RUNX3	chr2:184132186-184132533	GM12878	blood:	n/a	n/a
41	RUNX3	chr2:184124639-184125034	GM12878	blood:	n/a	n/a
42	SPI1	chr2:184131836-184132328	GM12891	blood:	n/a	chr2:184132087-184132096
43	SPI1	chr2:184131954-184132187	GM12878	blood:	n/a	chr2:184132087-184132096
44	SPI1	chr2:184131652-184132400	GM12878	blood:	n/a	chr2:184132087-184132096
45	SPI1	chr2:184131867-184132257	GM12878	blood:	n/a	chr2:184132087-184132096
46	SPI1	chr2:184131830-184132288	GM12891	blood:	n/a	chr2:184132087-184132096
47	STAT3	chr2:184138920-184139176	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr2:184141756-184141918	MCF10A-Er-Src	breast:	n/a	n/a
49	TCF12	chr2:184132256-184132545	GM12878	blood:	n/a	n/a
50	USF2	chr2:184123020-184123189	HepG2	liver:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:184122795-184122845	HepG2	liver:	n/a
2	chr2:184128621-184128671	AG09309	skin:	n/a
3	chr2:184125352-184125402	NHBE	bronchial:	n/a
4	chr2:184123747-184123797	PFSK-1	brain:	n/a
5	chr2:184125440-184125490	GM12892	blood:	n/a
6	chr2:184122795-184122845	HEEpiC	esophagus:	n/a
7	chr2:184122795-184122845	ovcar-3	ovarian:	n/a
8	chr2:184123747-184123797	AG04449	skin:	fetal
9	chr2:184128621-184128671	NH-A	brain:	n/a
10	chr2:184125416-184125466	PANC-1	pancreas:	n/a
11	chr2:184125416-184125466	HCPEpiC	choroid plexus:	n/a
12	chr2:184125555-184125605	IMR90	lung:	fetal
13	chr2:184122795-184122845	AG09309	skin:	n/a
14	chr2:184125555-184125605	ProgFib	skin:	n/a
15	chr2:184126810-184126860	PrEC	prostate:	n/a
16	chr2:184125352-184125402	T-47D	breast:	n/a
17	chr2:184123747-184123797	CMK	blood:	n/a
18	chr2:184125352-184125402	MCF-7	breast:	n/a
19	chr2:184122795-184122845	LNCaP	prostate:	n/a
20	chr2:184125416-184125466	ECC-1	luminal epithelium:	n/a
21	chr2:184125555-184125605	HRE	kidney:	n/a
22	chr2:184125352-184125402	PFSK-1	brain:	n/a
23	chr2:184125555-184125605	HepG2	liver:	n/a
24	chr2:184128621-184128671	SK-N-SH_RA	brain:	n/a
25	chr2:184125440-184125490	AG04450	lung:	fetal
26	chr2:184126810-184126860	K562	blood:	n/a
27	chr2:184125517-184125567	SK-N-SH_RA	brain:	n/a
28	chr2:184125517-184125567	NHBE	bronchial:	n/a
29	chr2:184125440-184125490	AoSMC	blood vessel:	n/a
30	chr2:184125517-184125567	GM12891	blood:	n/a
31	chr2:184122795-184122845	ProgFib	skin:	n/a
32	chr2:184125416-184125466	NB4	blood:	n/a
33	chr2:184126810-184126860	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:184125517-184125567	IMR90	lung:	fetal
35	chr2:184125555-184125605	Hela-S3	cervix:	n/a
36	chr2:184125440-184125490	ovcar-3	ovarian:	n/a
37	chr2:184125440-184125490	HNPCEpiC	eye:	n/a
38	chr2:184126810-184126860	GM19239	blood:	n/a
39	chr2:184125416-184125466	Hepatocyte	liver:	n/a
40	chr2:184123747-184123797	U87	brain:	n/a
41	chr2:184125517-184125567	BE2_C	brain:	n/a
42	chr2:184122795-184122845	NT2-D1	testis:	n/a
43	chr2:184125416-184125466	Jurkat	blood:	n/a
44	chr2:184123747-184123797	NB4	blood:	n/a
45	chr2:184122795-184122845	HL-60	blood:	n/a
46	chr2:184128621-184128671	SKMC	muscle:	n/a
47	chr2:184126810-184126860	HCT-116	colon:	n/a
48	chr2:184125440-184125490	HRCEpiC	kidney:	n/a
49	chr2:184128621-184128671	GM19239	blood:	n/a
50	chr2:184125440-184125490	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:184116987..184119368-chr2:184122248..184124621,2	MCF-7	breast:

No data

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

Extended variants
information (count: 833 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2061657	chr2:184121475-184121476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570051293	chr2:184121515-184121516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556212672	chr2:184121519-184121520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538940075	chr2:184121541-184121542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576081087	chr2:184121543-184121544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548139879	chr2:184121593-184121594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552743264	chr2:184121614-184121615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535549952	chr2:184121630-184121631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377160322	chr2:184121635-184121636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555131596	chr2:184121705-184121706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185099781	chr2:184121715-184121716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566102315	chr2:184121773-184121774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188250379	chr2:184121779-184121780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576176346	chr2:184121807-184121808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554477089	chr2:184121809-184121810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76187613	chr2:184121974-184121975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567961651	chr2:184121975-184121976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546059423	chr2:184121979-184121980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562544722	chr2:184122085-184122086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7605798	chr2:184122125-184122126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs145866860	chr2:184122182-184122183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562036457	chr2:184122183-184122184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527507156	chr2:184122205-184122206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78682122	chr2:184122209-184122210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570624117	chr2:184122216-184122217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558683465	chr2:184122219-184122220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533289184	chr2:184122227-184122228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550055257	chr2:184122313-184122314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7567074	chr2:184122339-184122340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs111783574	chr2:184122352-184122353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555485210	chr2:184122378-184122379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138630714	chr2:184122399-184122400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534440108	chr2:184122436-184122437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554091781	chr2:184122438-184122439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577257350	chr2:184122462-184122463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576976199	chr2:184122463-184122464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371123569	chr2:184122465-184122466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556430351	chr2:184122545-184122546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576073020	chr2:184122570-184122571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541834107	chr2:184122580-184122581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562242471	chr2:184122654-184122655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141102363	chr2:184122662-184122663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180692976	chr2:184122663-184122664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564278484	chr2:184122681-184122682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572418077	chr2:184122683-184122684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201676848	chr2:184122696-184122697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533122621	chr2:184122703-184122704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535380849	chr2:184122705-184122706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185315372	chr2:184122708-184122709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373125458	chr2:184122711-184122712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184115000-184123000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:184115400-184123000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:184115600-184123200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:184122800-184123600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:184123000-184123400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:184123000-184123600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:184123000-184123800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:184123000-184123800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:184123000-184123800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:184123000-184123800	Enhancers	Brain Substantia Nigra	brain
11	chr2:184123000-184124200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:184123200-184123800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:184123200-184123800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:184123200-184124000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:184123800-184126600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:184128400-184128600	Enhancers	Spleen	Spleen
17	chr2:184128600-184132400	Weak transcription	Spleen	Spleen
18	chr2:184130000-184130200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:184131600-184132600	Enhancers	Primary B cells from peripheral blood	blood
20	chr2:184131800-184147600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:184132000-184132600	Enhancers	GM12878-XiMat	blood
22	chr2:184132400-184132600	Enhancers	Spleen	Spleen
23	chr2:184134400-184134800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:184134400-184135400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:184140000-184140200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:184140200-184140600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:184140800-184141000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:184142200-184158400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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