Variant report

Variant	nsv1049436
Chromosome Location	chr12:37857751-37976960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr12:37871412-37871560	GM12878	blood:	n/a	n/a
2	CEBPB	chr12:37958942-37959282	A549	lung:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
3	CEBPB	chr12:37958947-37959272	Hela-S3	cervix:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
4	CEBPB	chr12:37958944-37959289	K562	blood:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
5	CEBPB	chr12:37958976-37959270	H1-hESC	embryonic stem cell:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
6	CEBPB	chr12:37933064-37933253	HepG2	liver:	n/a	chr12:37933129-37933140
7	CEBPB	chr12:37958937-37959283	K562	blood:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
8	CEBPB	chr12:37958940-37959289	HepG2	liver:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
9	CEBPB	chr12:37958940-37959279	IMR90	lung:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
10	CTCF	chr12:37929340-37929445	Fibrobl	skin:	n/a	n/a
11	CTCF	chr12:37914200-37914218	GM13977	blood:	n/a	n/a
12	CTCF	chr12:37927008-37927057	GM10266	blood:	n/a	n/a
13	CTCF	chr12:37928767-37928793	GM10248	blood:	n/a	n/a
14	CTCF	chr12:37951745-37951838	LNCaP	prostate:	n/a	n/a
15	CTCF	chr12:37975200-37975350	BE2_C	brain:	n/a	chr12:37975256-37975263 chr12:37975277-37975285
16	CTCF	chr12:37928969-37928998	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:37975271-37975417	LNCaP	prostate:	n/a	chr12:37975344-37975360 chr12:37975277-37975285
18	CTCF	chr12:37945605-37945645	Pancreas_OC	pancreas:	n/a	n/a
19	CTCF	chr12:37962938-37962963	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr12:37890314-37890344	GM13976	blood:	n/a	n/a
21	CTCF	chr12:37927017-37927079	GM20000	blood:	n/a	n/a
22	CTCF	chr12:37975294-37975382	MCF-7	breast:	n/a	chr12:37975344-37975360
23	CTCF	chr12:37975289-37975375	MCF-7	breast:	n/a	chr12:37975344-37975360
24	CTCF	chr12:37975310-37975402	Medullo	brain:	n/a	chr12:37975344-37975360
25	CTCF	chr12:37975200-37975350	HEK293	kidney:	n/a	chr12:37975256-37975263 chr12:37975277-37975285
26	CTCF	chr12:37975293-37975386	LNCaP	prostate:	n/a	chr12:37975344-37975360
27	CTCF	chr12:37890114-37890182	GM10248	blood:	n/a	n/a
28	CTCF	chr12:37975299-37975364	MCF-7	breast:	n/a	chr12:37975344-37975360
29	CTCF	chr12:37947918-37948034	GM13976	blood:	n/a	n/a
30	CTCF	chr12:37963737-37963739	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr12:37975293-37975382	MCF-7	breast:	n/a	chr12:37975344-37975360
32	CTCF	chr12:37930048-37930110	GM13976	blood:	n/a	n/a
33	CTCF	chr12:37959558-37959611	GM19240	blood:	n/a	n/a
34	CTCF	chr12:37894068-37894125	GM10248	blood:	n/a	n/a
35	CTCF	chr12:37975290-37975385	K562	blood:	n/a	chr12:37975344-37975360
36	CTCF	chr12:37927021-37927067	GM13976	blood:	n/a	n/a
37	CTCF	chr12:37963606-37963736	Kidney_OC	kidney:	n/a	n/a
38	EBF1	chr12:37932749-37932931	GM12878	blood:	n/a	n/a
39	EP300	chr12:37955237-37955506	GM12878	blood:	n/a	n/a
40	FOS	chr12:37927430-37927622	MCF10A-Er-Src	breast:	n/a	chr12:37927535-37927545 chr12:37927534-37927546 chr12:37927536-37927544 chr12:37927536-37927543 chr12:37927537-37927548
41	FOS	chr12:37959008-37959202	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr12:37958662-37958753	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr12:37927406-37927688	MCF10A-Er-Src	breast:	n/a	chr12:37927535-37927545 chr12:37927534-37927546 chr12:37927536-37927544 chr12:37927536-37927543 chr12:37927537-37927548
44	FOS	chr12:37959043-37959235	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr12:37958675-37958711	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr12:37927418-37927597	MCF10A-Er-Src	breast:	n/a	chr12:37927535-37927545 chr12:37927534-37927546 chr12:37927536-37927544 chr12:37927536-37927543 chr12:37927537-37927548
47	FOS	chr12:37927392-37927696	MCF10A-Er-Src	breast:	n/a	chr12:37927535-37927545 chr12:37927534-37927546 chr12:37927536-37927544 chr12:37927536-37927543 chr12:37927537-37927548
48	FOSL2	chr12:37959918-37960557	HepG2	liver:	n/a	n/a
49	FOSL2	chr12:37871281-37871634	HepG2	liver:	n/a	n/a
50	FOSL2	chr12:37960913-37961411	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:37935346-37935396	HEK293	kidney:	embryo
2	chr12:37935346-37935396	HEK293	kidney:	embryo
3	chr12:37937769-37937819	Hela-S3	cervix:	n/a
4	chr12:37937799-37937849	HRPEpiC	eye:	n/a
5	chr12:37941348-37941398	PANC-1	pancreas:	n/a
6	chr12:37936142-37936192	U87	brain:	n/a
7	chr12:37937769-37937819	ECC-1	luminal epithelium:	n/a
8	chr12:37936314-37936364	IMR90	lung:	fetal
9	chr12:37935538-37935588	HMEC	breast:	n/a
10	chr12:37937799-37937849	CMK	blood:	n/a
11	chr12:37939694-37939744	HRE	kidney:	n/a
12	chr12:37936142-37936192	GM06990	blood:	n/a
13	chr12:37936063-37936113	PANC-1	pancreas:	n/a
14	chr12:37942400-37942450	HCF	heart:	n/a
15	chr12:37941570-37941620	BJ	skin:	n/a
16	chr12:37936063-37936113	NH-A	brain:	n/a
17	chr12:37936314-37936364	GM12891	blood:	n/a
18	chr12:37940985-37941035	HMEC	breast:	n/a
19	chr12:37935346-37935396	HCM	heart:	n/a
20	chr12:37935346-37935396	MCF10A-Er-Src	breast:	n/a
21	chr12:37942400-37942450	HEK293	kidney:	embryo
22	chr12:37942267-37942317	HNPCEpiC	eye:	n/a
23	chr12:37937608-37937658	SK-N-SH_RA	brain:	n/a
24	chr12:37941570-37941620	HRCEpiC	kidney:	n/a
25	chr12:37960372-37960422	HRE	kidney:	n/a
26	chr12:37939694-37939744	NT2-D1	testis:	n/a
27	chr12:37935538-37935588	SK-N-SH_RA	brain:	n/a
28	chr12:37937799-37937849	AG09309	skin:	n/a
29	chr12:37942439-37942489	BJ	skin:	n/a
30	chr12:37960372-37960422	GM12892	blood:	n/a
31	chr12:37937769-37937819	BJ	skin:	n/a
32	chr12:37960372-37960422	HL-60	blood:	n/a
33	chr12:37941570-37941620	ovcar-3	ovarian:	n/a
34	chr12:37937769-37937819	HCT-116	colon:	n/a
35	chr12:37942267-37942317	Jurkat	blood:	n/a
36	chr12:37960160-37960210	Hela-S3	cervix:	n/a
37	chr12:37960372-37960422	NHBE	bronchial:	n/a
38	chr12:37942439-37942489	GM19239	blood:	n/a
39	chr12:37935346-37935396	T-47D	breast:	n/a
40	chr12:37936314-37936364	HCM	heart:	n/a
41	chr12:37942400-37942450	HRE	kidney:	n/a
42	chr12:37941570-37941620	HCT-116	colon:	n/a
43	chr12:37936314-37936364	K562	blood:	n/a
44	chr12:37960160-37960210	LNCaP	prostate:	n/a
45	chr12:37937769-37937819	HRPEpiC	eye:	n/a
46	chr12:37937769-37937819	IMR90	lung:	fetal
47	chr12:37960372-37960422	ECC-1	luminal epithelium:	n/a
48	chr12:37935538-37935588	HCPEpiC	choroid plexus:	n/a
49	chr12:37937608-37937658	T-47D	breast:	n/a
50	chr12:37936314-37936364	PANC-1	pancreas:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10B-10	chr12:37970091-37970259	NONHSAT027669
2	lnc-ALG10B-10	chr12:37969385-37969515	NONHSAT027669
3	lnc-ALG10B-10	chr12:37970091-37970186	NONHSAT027668
4	lnc-ALG10B-10	chr12:37969251-37969555	NONHSAT027668

Variant related genes	Relation type
ENSG00000257933	TF binding region
ENSG00000258368	TF binding region
ENSG00000257794	TF binding region
ENSG00000257899	TF binding region
ENSG00000257933	CpG island
ENSG00000258368	CpG island
ENSG00000257794	CpG island
ENSG00000257899	CpG island

Extended variants
information (count: 988 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:988 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532965872	chr12:37879207-37879208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4002716	chr12:37879229-37879230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61921987	chr12:37879233-37879234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540124761	chr12:37879238-37879239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143577881	chr12:37879245-37879246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs202198290	chr12:37879249-37879250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150711778	chr12:37879258-37879259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560407947	chr12:37879267-37879268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4002715	chr12:37879329-37879330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529035709	chr12:37879337-37879338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4002745	chr12:37879353-37879354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61921988	chr12:37879366-37879367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76877803	chr12:37879382-37879383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549199097	chr12:37879386-37879387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568788256	chr12:37879398-37879399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4002744	chr12:37879409-37879410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4002743	chr12:37879416-37879417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531001566	chr12:37879433-37879434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551115456	chr12:37879434-37879435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570720892	chr12:37879476-37879477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539829092	chr12:37879479-37879480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200137328	chr12:37879495-37879496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546929094	chr12:37879499-37879500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4123920	chr12:37879504-37879505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201409709	chr12:37879525-37879526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200609204	chr12:37879526-37879527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201342334	chr12:37879548-37879549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77772504	chr12:37879564-37879565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374012560	chr12:37879569-37879570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535786791	chr12:37879598-37879599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555526798	chr12:37879600-37879601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113587317	chr12:37879601-37879602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371030893	chr12:37879602-37879603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111726696	chr12:37879627-37879628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4002742	chr12:37879638-37879639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4002741	chr12:37879643-37879644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4002740	chr12:37879666-37879667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199764301	chr12:37879687-37879688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200561165	chr12:37879704-37879705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4002739	chr12:37879719-37879720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537521213	chr12:37879748-37879749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11561452	chr12:37879750-37879751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201966701	chr12:37879757-37879758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187634691	chr12:37879778-37879779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4002738	chr12:37879785-37879786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71447687	chr12:37879822-37879823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550360044	chr12:37879823-37879824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567265296	chr12:37879824-37879825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192824689	chr12:37879851-37879852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199676567	chr12:37879855-37879856	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20858243	CNVD
Osteosarcoma	21215367	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37879200-37880200	Enhancers	Dnd41	blood
2	chr12:37891400-37892600	Enhancers	Dnd41	blood
3	chr12:37895600-37896000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:37919800-37920600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:37920600-37921200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:37921200-37921400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:37921400-37922400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:37922400-37922800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:37934000-37935000	ZNF genes & repeats	Spleen	Spleen
10	chr12:37934000-37942000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:37934000-37942400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:37936200-37942000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:37941200-37942000	Active TSS	K562	blood
14	chr12:37941400-37941800	ZNF genes & repeats	Placenta	Placenta
15	chr12:37960200-37960600	Enhancers	Spleen	Spleen
16	chr12:37960600-37961200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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