Variant report

Variant	nsv976762
Chromosome Location	chr12:10952631-10955306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr12:10955299-10955391	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUN	chr12:10954330-10954332	H1-hESC	embryonic stem cell:	n/a	n/a
3	JUND	chr12:10952605-10952844	HepG2	liver:	n/a	chr12:10952726-10952735
4	MAFF	chr12:10954700-10954707	HepG2	liver:	n/a	n/a
5	STAT3	chr12:10953440-10953866	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10954529-10954579	AoSMC	blood vessel:	n/a
2	chr12:10954529-10954579	BE2_C	brain:	n/a
3	chr12:10954529-10954579	GM12891	blood:	n/a
4	chr12:10954529-10954579	NT2-D1	testis:	n/a
5	chr12:10954529-10954579	BJ	skin:	n/a
6	chr12:10954529-10954579	NH-A	brain:	n/a
7	chr12:10954529-10954579	HAEpiC	amniotic membrane:	n/a
8	chr12:10954529-10954579	RPTEC	kidney:	n/a
9	chr12:10954529-10954579	HEK293	kidney:	embryo
10	chr12:10954529-10954579	K562	blood:	n/a
11	chr12:10954529-10954579	Hela-S3	cervix:	n/a
12	chr12:10954529-10954579	ProgFib	skin:	n/a
13	chr12:10954529-10954579	HUVEC	blood vessel:	n/a
14	chr12:10954529-10954579	PrEC	prostate:	n/a
15	chr12:10954529-10954579	SK-N-SH_RA	brain:	n/a
16	chr12:10954529-10954579	A549	lung:	n/a
17	chr12:10954529-10954579	NHBE	bronchial:	n/a
18	chr12:10954529-10954579	IMR90	lung:	fetal
19	chr12:10954529-10954579	AG09319	gingival:	n/a
20	chr12:10954529-10954579	NB4	blood:	n/a
21	chr12:10954529-10954579	HCPEpiC	choroid plexus:	n/a
22	chr12:10954529-10954579	LNCaP	prostate:	n/a
23	chr12:10954529-10954579	GM19239	blood:	n/a
24	chr12:10954529-10954579	GM06990	blood:	n/a
25	chr12:10954529-10954579	HMEC	breast:	n/a
26	chr12:10954529-10954579	PFSK-1	brain:	n/a
27	chr12:10954529-10954579	HRCEpiC	kidney:	n/a
28	chr12:10954529-10954579	PANC-1	pancreas:	n/a
29	chr12:10954529-10954579	SKMC	muscle:	n/a
30	chr12:10954529-10954579	GM12878	blood:	n/a
31	chr12:10954529-10954579	T-47D	breast:	n/a
32	chr12:10954529-10954579	ECC-1	luminal epithelium:	n/a
33	chr12:10954529-10954579	HRE	kidney:	n/a
34	chr12:10954529-10954579	SK-N-MC	brain:	n/a
35	chr12:10954529-10954579	H1-hESC	embryonic stem cell:	embryo
36	chr12:10954529-10954579	AG04450	lung:	fetal
37	chr12:10954529-10954579	MCF10A-Er-Src	breast:	n/a
38	chr12:10954529-10954579	NHDF-neo	bronchial:	n/a
39	chr12:10954529-10954579	HNPCEpiC	eye:	n/a
40	chr12:10954529-10954579	CMK	blood:	n/a
41	chr12:10954529-10954579	HL-60	blood:	n/a
42	chr12:10954529-10954579	HIPEpiC	eye:	n/a
43	chr12:10954529-10954579	Jurkat	blood:	n/a
44	chr12:10954529-10954579	AG09309	skin:	n/a
45	chr12:10954529-10954579	GM12892	blood:	n/a
46	chr12:10954529-10954579	MCF-7	breast:	n/a
47	chr12:10954529-10954579	HRPEpiC	eye:	n/a
48	chr12:10954529-10954579	SK-N-SH	brain:	n/a
49	chr12:10954529-10954579	HCM	heart:	n/a
50	chr12:10954529-10954579	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10951582..10953191-chr12:10954611..10956191,2	K562	blood:

No data

Variant related genes	Relation type
TAS2R7	TF binding region
TAS2R7	CpG island
ENSG00000121377	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182390044	chr12:10952642-10952643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144913041	chr12:10952658-10952659	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541600461	chr12:10952666-10952667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561890902	chr12:10952667-10952668	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559620059	chr12:10952679-10952680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539641989	chr12:10952685-10952686	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186254144	chr12:10952686-10952687	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375349139	chr12:10952690-10952691	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571124516	chr12:10952703-10952704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564031890	chr12:10952715-10952716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532956241	chr12:10952784-10952785	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546660514	chr12:10952807-10952808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190575339	chr12:10952835-10952836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532008538	chr12:10952865-10952866	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148632963	chr12:10952866-10952867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568598939	chr12:10952910-10952911	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542562174	chr12:10952912-10952913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34212148	chr12:10953022-10953023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs74060671	chr12:10953025-10953026	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115115000	chr12:10953037-10953038	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2588350	chr12:10953057-10953058	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs552974167	chr12:10953058-10953059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572920559	chr12:10953113-10953114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10161483	chr12:10953801-10953802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560290757	chr12:10953837-10953838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552118292	chr12:10953840-10953841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113551589	chr12:10953885-10953886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573674695	chr12:10953913-10953914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542298641	chr12:10953920-10953921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147102285	chr12:10954019-10954020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556743128	chr12:10954052-10954053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531135376	chr12:10954074-10954075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187482140	chr12:10954118-10954119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372662810	chr12:10954158-10954159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374135400	chr12:10954194-10954195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147748080	chr12:10954219-10954220	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546643951	chr12:10954246-10954247	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566674735	chr12:10954251-10954252	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs267603295	chr12:10954256-10954257	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs619381	chr12:10954258-10954259	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs144773045	chr12:10954283-10954284	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs569111567	chr12:10954304-10954305	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs537722865	chr12:10954307-10954308	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs138365374	chr12:10954311-10954312	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs142826844	chr12:10954330-10954331	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs558100889	chr12:10954348-10954349	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs11838055	chr12:10954382-10954383	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs3759251	chr12:10954383-10954384	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368353730	chr12:10954399-10954400	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs143503106	chr12:10954403-10954404	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10953800-10955200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr12:10953800-10955200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:10954000-10954200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:10954200-10954400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:10954200-10954600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:10954200-10955800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:10954200-10955800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:10954400-10954600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:10954400-10955200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:10954400-10955200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:10954400-10955600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:10954400-10955600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:10954400-10955600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:10954400-10955600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:10954400-10955600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:10954600-10955000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:10954600-10955400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr12:10954600-10955600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:10955000-10955800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:10955200-10955400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr12:10955200-10955600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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