Variant report

Variant	nsv975629
Chromosome Location	chr12:40912282-40917375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr12:40914481-40914544	GM12878	blood:	n/a	n/a
2	MAFF	chr12:40916671-40916957	HepG2	liver:	n/a	chr12:40916820-40916838
3	MAFF	chr12:40916782-40916904	K562	blood:	n/a	chr12:40916820-40916838
4	MAFK	chr12:40916785-40916884	K562	blood:	n/a	chr12:40916822-40916837
5	MAFK	chr12:40916675-40917007	HepG2	liver:	n/a	chr12:40916822-40916837
6	MAFK	chr12:40916706-40916990	HepG2	liver:	n/a	chr12:40916822-40916837
7	MAZ	chr12:40914822-40914860	HepG2	liver:	n/a	n/a
8	NFIC	chr12:40913475-40914144	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:40912674-40912788	ProgFib	skin:	n/a	n/a
10	RUNX3	chr12:40913540-40914223	GM12878	blood:	n/a	n/a
11	RUNX3	chr12:40913558-40913847	GM12878	blood:	n/a	n/a
12	RUNX3	chr12:40913882-40914193	GM12878	blood:	n/a	n/a
13	SPI1	chr12:40913577-40913820	GM12891	blood:	n/a	n/a
14	SPI1	chr12:40913586-40913870	GM12891	blood:	n/a	n/a
15	SPI1	chr12:40913596-40913863	HL-60	blood:	n/a	n/a
16	STAT3	chr12:40917107-40917131	MCF10A-Er-Src	breast:	n/a	n/a
17	WRNIP1	chr12:40916836-40916852	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:40915247-40915297	GM12892	blood:	n/a
2	chr12:40916109-40916159	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:40915247-40915297	NB4	blood:	n/a
4	chr12:40915247-40915297	BE2_C	brain:	n/a
5	chr12:40916109-40916159	GM12891	blood:	n/a
6	chr12:40915247-40915297	IMR90	lung:	fetal
7	chr12:40916109-40916159	BE2_C	brain:	n/a
8	chr12:40915247-40915297	HRPEpiC	eye:	n/a
9	chr12:40915247-40915297	ovcar-3	ovarian:	n/a
10	chr12:40915247-40915297	AG09309	skin:	n/a
11	chr12:40915247-40915297	AG10803	skin:	n/a
12	chr12:40916109-40916159	AG04449	skin:	fetal
13	chr12:40916109-40916159	HCF	heart:	n/a
14	chr12:40915247-40915297	HPAEpiC	pulmonary alveolar:	n/a
15	chr12:40916109-40916159	SK-N-SH_RA	brain:	n/a
16	chr12:40915247-40915297	PANC-1	pancreas:	n/a
17	chr12:40915247-40915297	Hepatocyte	liver:	n/a
18	chr12:40915247-40915297	GM12878	blood:	n/a
19	chr12:40915247-40915297	HUVEC	blood vessel:	n/a
20	chr12:40916109-40916159	HL-60	blood:	n/a
21	chr12:40915247-40915297	GM19239	blood:	n/a
22	chr12:40916109-40916159	GM19239	blood:	n/a
23	chr12:40915247-40915297	K562	blood:	n/a
24	chr12:40916109-40916159	Hela-S3	cervix:	n/a
25	chr12:40915247-40915297	AG04449	skin:	fetal
26	chr12:40915247-40915297	SKMC	muscle:	n/a
27	chr12:40916109-40916159	SK-N-SH	brain:	n/a
28	chr12:40915247-40915297	HEK293	kidney:	embryo
29	chr12:40916109-40916159	AoSMC	blood vessel:	n/a
30	chr12:40915247-40915297	MCF-7	breast:	n/a
31	chr12:40916109-40916159	HepG2	liver:	n/a
32	chr12:40916109-40916159	AG09319	gingival:	n/a
33	chr12:40915247-40915297	SK-N-SH_RA	brain:	n/a
34	chr12:40916109-40916159	PANC-1	pancreas:	n/a
35	chr12:40915247-40915297	HCF	heart:	n/a
36	chr12:40916109-40916159	Caco-2	colon:	n/a
37	chr12:40915247-40915297	AG04450	lung:	fetal
38	chr12:40915247-40915297	BJ	skin:	n/a
39	chr12:40916109-40916159	RPTEC	kidney:	n/a
40	chr12:40915247-40915297	SAEC	small airway:	n/a
41	chr12:40915247-40915297	HEEpiC	esophagus:	n/a
42	chr12:40916109-40916159	HIPEpiC	eye:	n/a
43	chr12:40915247-40915297	PrEC	prostate:	n/a
44	chr12:40916109-40916159	HRE	kidney:	n/a
45	chr12:40915247-40915297	ProgFib	skin:	n/a
46	chr12:40916109-40916159	HMEC	breast:	n/a
47	chr12:40916109-40916159	HCM	heart:	n/a
48	chr12:40916109-40916159	HRCEpiC	kidney:	n/a
49	chr12:40916109-40916159	HRPEpiC	eye:	n/a
50	chr12:40915247-40915297	Hela-S3	cervix:	n/a

No data

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTN1-1	chr12:40914381-40914579	NONHSAT140068
2	lnc-CNTN1-1	chr12:40915427-40915481	XLOC_009713
3	lnc-CNTN1-1	chr12:40916445-40916498	XLOC_009713
4	lnc-CNTN1-1	chr12:40916287-40917247	NONHSAT027733
5	lnc-CNTN1-1	chr12:40915427-40915481	NONHSAT140068
6	lnc-CNTN1-1	chr12:40917194-40917247	NONHSAT140068
7	lnc-CNTN1-1	chr12:40915276-40915329	XLOC_009713
8	lnc-CNTN1-1	chr12:40917194-40917247	XLOC_009713
9	lnc-CNTN1-1	chr12:40916445-40916498	NONHSAT140068
10	lnc-CNTN1-1	chr12:40914717-40914770	XLOC_009713
11	lnc-CNTN1-1	chr12:40914717-40914770	NONHSAT140068
12	lnc-CNTN1-1	chr12:40914435-40914579	XLOC_009713
13	lnc-CNTN1-1	chr12:40915276-40915329	NONHSAT140068
14	lnc-CNTN1-1	chr12:40916287-40917247	XLOC_009713

No data

Variant related genes	Relation type
MUC19	TF binding region
MUC19	CpG island

Extended variants
information (count: 187 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372492579	chr12:40912285-40912286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184685418	chr12:40912330-40912331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528537584	chr12:40912353-40912354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547002164	chr12:40912366-40912367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571999966	chr12:40912497-40912498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539312687	chr12:40912609-40912610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139590620	chr12:40912632-40912633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569312112	chr12:40912669-40912670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536849505	chr12:40912673-40912674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73116206	chr12:40912684-40912685	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs202062016	chr12:40912694-40912695	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs573384596	chr12:40912696-40912697	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs534342573	chr12:40912715-40912716	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs61913667	chr12:40912732-40912733	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs111849415	chr12:40912761-40912762	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs577530038	chr12:40912766-40912767	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs61913668	chr12:40912792-40912793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76165012	chr12:40912800-40912801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544931853	chr12:40912807-40912808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2588398	chr12:40912835-40912836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4767982	chr12:40912846-40912847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563498570	chr12:40912873-40912874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575399174	chr12:40912875-40912876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542799735	chr12:40912878-40912879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147438603	chr12:40912883-40912884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77858293	chr12:40912895-40912896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547038943	chr12:40912901-40912902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565246153	chr12:40912950-40912951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527542111	chr12:40912953-40912954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112863400	chr12:40912954-40912955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11425006	chr12:40912963-40912964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532864357	chr12:40912993-40912994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12821752	chr12:40912995-40912996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530292154	chr12:40913476-40913477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs563066761	chr12:40913486-40913487	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs530390260	chr12:40913519-40913520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs548511054	chr12:40913544-40913545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs145362311	chr12:40913553-40913554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs534413075	chr12:40913564-40913565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs55925971	chr12:40913569-40913570	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs530832453	chr12:40913607-40913608	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs546333127	chr12:40913654-40913655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs552497811	chr12:40913656-40913657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs2638887	chr12:40913680-40913681	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs571004390	chr12:40913700-40913701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs201178857	chr12:40913733-40913734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs556897370	chr12:40913795-40913796	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs2638888	chr12:40913817-40913818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs2638889	chr12:40913888-40913889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs569079411	chr12:40913915-40913916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Acute lymphoblastic leukemia	21390130	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
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
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40911800-40912800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr12:40911800-40913000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:40912000-40912400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:40912000-40912800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:40912200-40912600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:40912200-40913000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:40914200-40914400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:40915200-40915600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:40915600-40919400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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