Variant report

Variant	nsv973127
Chromosome Location	chr12:120391836-120402653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:120393976-120394069	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr12:120394885-120395412	HCT-116	colon:	n/a	n/a
3	CTCF	chr12:120394100-120394250	MCF-7	breast:	n/a	n/a
4	CTCF	chr12:120393980-120394130	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr12:120397320-120397470	MCF-7	breast:	n/a	n/a
6	CTCF	chr12:120394000-120394150	HPAF	blood vessel:	n/a	n/a
7	CTCF	chr12:120393882-120394195	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr12:120397300-120397450	A549	lung:	n/a	n/a
9	CTCF	chr12:120397320-120397470	HMEC	breast:	n/a	n/a
10	CTCF	chr12:120393980-120394130	HMF	breast:	n/a	n/a
11	CTCF	chr12:120394017-120394121	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr12:120394000-120394150	A549	lung:	n/a	n/a
13	CTCF	chr12:120393980-120394130	BE2_C	brain:	n/a	n/a
14	CTCF	chr12:120394080-120394230	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:120397318-120397536	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr12:120394020-120394170	HepG2	liver:	n/a	n/a
17	CTCF	chr12:120394007-120394152	HepG2	liver:	n/a	n/a
18	CTCF	chr12:120397320-120397470	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr12:120394060-120394210	GM12873	blood:	n/a	n/a
20	CTCF	chr12:120397360-120397510	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:120397366-120397493	K562	blood:	n/a	n/a
22	CTCF	chr12:120393980-120394130	NB4	blood:	n/a	n/a
23	CTCF	chr12:120393940-120394090	HEK293	kidney:	n/a	n/a
24	CTCF	chr12:120397326-120397506	LNCaP	prostate:	n/a	n/a
25	CTCF	chr12:120397340-120397492	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr12:120394020-120394170	HMEC	breast:	n/a	n/a
27	CTCF	chr12:120397340-120397490	HEK293	kidney:	n/a	n/a
28	CTCF	chr12:120397340-120397490	HCT-116	colon:	n/a	n/a
29	CTCF	chr12:120397360-120397510	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr12:120394040-120394190	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr12:120393974-120394170	K562	blood:	n/a	n/a
32	CTCF	chr12:120397320-120397470	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr12:120397389-120397466	HepG2	liver:	n/a	n/a
34	CTCF	chr12:120397420-120397570	NHEK	skin:	n/a	n/a
35	CTCF	chr12:120393840-120393865	LNCaP	prostate:	n/a	n/a
36	CTCF	chr12:120397320-120397470	RPTEC	kidney:	n/a	n/a
37	CTCF	chr12:120393976-120394135	HepG2	liver:	n/a	n/a
38	CTCF	chr12:120393940-120394090	SAEC	small airway:	n/a	n/a
39	CTCF	chr12:120394020-120394170	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr12:120393946-120394204	K562	blood:	n/a	n/a
41	CTCF	chr12:120397381-120397490	MCF-7	breast:	n/a	n/a
42	CTCF	chr12:120397280-120397430	RPTEC	kidney:	n/a	n/a
43	CTCF	chr12:120394020-120394170	HEK293	kidney:	n/a	n/a
44	CTCF	chr12:120394053-120394107	Gliobla	brain:	n/a	n/a
45	CTCF	chr12:120393870-120394199	HepG2	liver:	n/a	n/a
46	CTCF	chr12:120397340-120397490	SAEC	small airway:	n/a	n/a
47	CTCF	chr12:120397337-120397505	LNCaP	prostate:	n/a	n/a
48	CTCF	chr12:120393980-120394130	K562	blood:	n/a	n/a
49	CTCF	chr12:120397340-120397490	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr12:120397347-120397507	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120382726..120385233-chr12:120390460..120392501,2	MCF-7	breast:
2	chr12:120395843..120397395-chr12:120398275..120401201,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL35AP30	TF binding region
ENSG00000226729	chromatin interactions

Extended variants
information (count: 189 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs557057989	chr12:120393156-120393157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs375091001	chr12:120393174-120393175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs35430416	chr12:120393183-120393184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs192573235	chr12:120393195-120393196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs78955224	chr12:120393258-120393259	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs559168168	chr12:120393298-120393299	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs572793232	chr12:120393299-120393300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs148867334	chr12:120393313-120393314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs561403707	chr12:120393325-120393326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs563154299	chr12:120393336-120393337	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs185703473	chr12:120393337-120393338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs563804110	chr12:120393340-120393341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs145357032	chr12:120393343-120393344	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs185247459	chr12:120393812-120393813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535231356	chr12:120393859-120393860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs567957537	chr12:120393900-120393901	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs148188959	chr12:120393947-120393948	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs73404500	chr12:120393960-120393961	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142022463	chr12:120393976-120393977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs528062432	chr12:120393988-120393989	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs188587424	chr12:120393989-120393990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs76743726	chr12:120394010-120394011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs545920282	chr12:120394043-120394044	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs181041791	chr12:120394076-120394077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs369432488	chr12:120394097-120394098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs528310227	chr12:120394156-120394157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs35683384	chr12:120394171-120394172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs183666474	chr12:120394179-120394180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs139900340	chr12:120394199-120394200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs530689170	chr12:120394236-120394237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs550568498	chr12:120394239-120394240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs188283291	chr12:120394262-120394263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs149393748	chr12:120394287-120394288	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs147485014	chr12:120394296-120394297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs528098727	chr12:120394306-120394307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs568587080	chr12:120394729-120394730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs78538196	chr12:120394735-120394736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs551030526	chr12:120394762-120394763	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs61945800	chr12:120394782-120394783	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs151211056	chr12:120394796-120394797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs539450506	chr12:120394829-120394830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs552920897	chr12:120394841-120394842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs140299304	chr12:120394868-120394869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs535611046	chr12:120394891-120394892	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs374301226	chr12:120394925-120394926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs575397299	chr12:120394956-120394957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs544388050	chr12:120394964-120394965	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs7964604	chr12:120395002-120395003	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577975946	chr12:120395006-120395007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs571572686	chr12:120395009-120395010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120397800-120400200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:120400800-120401200	Bivalent Enhancer	HSMMtube	muscle
3	chr12:120401000-120401400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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