Variant report

Variant	nsv520635
Chromosome Location	chr12:44707667-44720874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:224)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:224 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:44710298-44710883	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr12:44711249-44711304	HepG2	liver:	n/a	n/a
3	CEBPB	chr12:44711143-44711271	H1-hESC	embryonic stem cell:	n/a	chr12:44711233-44711244
4	CTCF	chr12:44711420-44711570	GM12865	blood:	n/a	n/a
5	CTCF	chr12:44711408-44711760	GM12891	blood:	n/a	n/a
6	CTCF	chr12:44711477-44711568	Lung_OC	lung:	n/a	n/a
7	CTCF	chr12:44711440-44711590	HCM	heart:	n/a	n/a
8	CTCF	chr12:44711460-44711610	GM12864	blood:	n/a	n/a
9	CTCF	chr12:44711415-44711603	GM10248	blood:	n/a	n/a
10	CTCF	chr12:44711480-44711630	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr12:44711440-44711590	Caco-2	colon:	n/a	n/a
12	CTCF	chr12:44711420-44711570	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr12:44711420-44711570	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr12:44711420-44711570	HAc	cerebellar:	n/a	n/a
15	CTCF	chr12:44711440-44711590	GM12878	blood:	n/a	n/a
16	CTCF	chr12:44711440-44711590	GM12864	blood:	n/a	n/a
17	CTCF	chr12:44711440-44711590	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr12:44711400-44711550	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr12:44711365-44711557	A549	lung:	n/a	n/a
20	CTCF	chr12:44711440-44711590	HVMF	connective:	n/a	n/a
21	CTCF	chr12:44711520-44711670	GM12875	blood:	n/a	n/a
22	CTCF	chr12:44711440-44711590	SAEC	small airway:	n/a	n/a
23	CTCF	chr12:44711440-44711590	GM12801	blood:	n/a	n/a
24	CTCF	chr12:44711400-44711550	GM12867	blood:	n/a	n/a
25	CTCF	chr12:44711420-44711570	GM12867	blood:	n/a	n/a
26	CTCF	chr12:44711420-44711617	LNCaP	prostate:	n/a	n/a
27	CTCF	chr12:44711401-44711627	GM13977	blood:	n/a	n/a
28	CTCF	chr12:44711634-44711841	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:44711800-44711950	GM12874	blood:	n/a	n/a
30	CTCF	chr12:44711234-44711910	A549	lung:	n/a	n/a
31	CTCF	chr12:44711393-44711633	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr12:44711363-44711645	HepG2	liver:	n/a	n/a
33	CTCF	chr12:44711416-44711576	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr12:44711440-44711590	MCF-7	breast:	n/a	n/a
35	CTCF	chr12:44711440-44711590	HMEC	breast:	n/a	n/a
36	CTCF	chr12:44711460-44711610	HCFaa	heart:	n/a	n/a
37	CTCF	chr12:44711456-44711541	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr12:44711388-44711618	MCF-7	breast:	n/a	n/a
39	CTCF	chr12:44711400-44711550	SAEC	small airway:	n/a	n/a
40	CTCF	chr12:44711409-44711796	MCF-7	breast:	n/a	n/a
41	CTCF	chr12:44711440-44711590	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr12:44711440-44711590	AG10803	skin:	n/a	n/a
43	CTCF	chr12:44711440-44711590	GM06990	blood:	n/a	n/a
44	CTCF	chr12:44711415-44711590	HepG2	liver:	n/a	n/a
45	CTCF	chr12:44711403-44711553	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:44711380-44711652	Medullo	brain:	n/a	n/a
47	CTCF	chr12:44711440-44711590	HepG2	liver:	n/a	n/a
48	CTCF	chr12:44711480-44711630	GM12873	blood:	n/a	n/a
49	CTCF	chr12:44711420-44711570	HEK293	kidney:	n/a	n/a
50	CTCF	chr12:44711412-44711661	T-47D	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44710214..44712125-chr12:44712657..44715022,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM117	TF binding region
ENSG00000139173	chromatin interactions

Extended variants
information (count: 512 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1098498	chr12:44707667-44707668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184288927	chr12:44707677-44707678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558340343	chr12:44707686-44707687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559687687	chr12:44707708-44707709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1104356	chr12:44707718-44707719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562874965	chr12:44707731-44707732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188586140	chr12:44707741-44707742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531207668	chr12:44707780-44707781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191680163	chr12:44707782-44707783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548607019	chr12:44707791-44707792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560346153	chr12:44707809-44707810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527790464	chr12:44707810-44707811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552060609	chr12:44707912-44707913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376150636	chr12:44707918-44707919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1726879	chr12:44707941-44707942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs578074889	chr12:44707945-44707946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569064000	chr12:44707958-44707959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76649382	chr12:44707965-44707966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557139343	chr12:44707972-44707973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568411285	chr12:44707975-44707976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116500665	chr12:44708003-44708004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569412432	chr12:44708034-44708035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553737641	chr12:44708066-44708067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571997689	chr12:44708067-44708068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375746192	chr12:44708072-44708073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200966568	chr12:44708077-44708078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183852284	chr12:44708097-44708098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189011072	chr12:44708105-44708106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558690989	chr12:44708111-44708112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577004761	chr12:44708154-44708155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182407195	chr12:44708178-44708179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570796469	chr12:44708181-44708182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187173283	chr12:44708237-44708238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190403713	chr12:44708247-44708248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560558173	chr12:44708248-44708249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535024685	chr12:44708259-44708260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181491807	chr12:44708267-44708268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151087146	chr12:44708268-44708269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201350923	chr12:44708281-44708282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564600605	chr12:44708288-44708289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531531681	chr12:44708314-44708315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550040908	chr12:44708325-44708326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568320627	chr12:44708337-44708338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199835167	chr12:44708349-44708350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574895363	chr12:44708353-44708354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79921829	chr12:44708368-44708369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75031465	chr12:44708370-44708371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541908239	chr12:44708410-44708411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117906378	chr12:44708416-44708417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141122421	chr12:44708440-44708441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Neurodevelopmental disorder	22521361	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44712600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44699000-44713800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:44699000-44736000	Weak transcription	Pancreas	Pancrea
4	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
5	chr12:44703400-44711800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:44706800-44711800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:44707200-44708000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr12:44707600-44709200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:44708600-44708800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:44709200-44743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:44710800-44711400	Enhancers	Hela-S3	cervix
12	chr12:44711600-44711800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:44711600-44712000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:44711600-44712800	Enhancers	Esophagus	oesophagus
15	chr12:44711800-44712400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:44711800-44712600	Enhancers	HMEC	breast
17	chr12:44711800-44712600	Enhancers	NHEK	skin
18	chr12:44711800-44713000	Strong transcription	Fetal Intestine Small	intestine
19	chr12:44712000-44712400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:44712400-44712800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:44712400-44765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:44712600-44712800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:44712800-44713400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:44713000-44714800	Weak transcription	Fetal Intestine Small	intestine

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