Variant report

Variant	nsv524767
Chromosome Location	chr3:60438026-60531242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:264)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:60438633-60438818	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:60438400-60438401	K562	blood:	n/a	n/a
3	ATF2	chr3:60490547-60490897	GM12878	blood:	n/a	n/a
4	BACH1	chr3:60477738-60477770	K562	blood:	n/a	n/a
5	BACH1	chr3:60506210-60506414	K562	blood:	n/a	n/a
6	BATF	chr3:60522246-60522459	GM12878	blood:	n/a	n/a
7	BATF	chr3:60490607-60490758	GM12878	blood:	n/a	n/a
8	BCL11A	chr3:60490610-60490852	GM12878	blood:	n/a	n/a
9	BCL11A	chr3:60490569-60490827	GM12878	blood:	n/a	n/a
10	BCL11A	chr3:60514439-60514714	GM12878	blood:	n/a	n/a
11	BHLHE40	chr3:60500213-60500224	K562	blood:	n/a	n/a
12	BHLHE40	chr3:60500477-60500907	K562	blood:	n/a	n/a
13	CEBPB	chr3:60492999-60493149	K562	blood:	n/a	n/a
14	CEBPB	chr3:60445566-60445776	K562	blood:	n/a	n/a
15	CEBPB	chr3:60446915-60447183	K562	blood:	n/a	n/a
16	CEBPB	chr3:60502935-60503162	H1-hESC	embryonic stem cell:	n/a	chr3:60503042-60503059 chr3:60503044-60503055
17	CEBPB	chr3:60452412-60452501	K562	blood:	n/a	n/a
18	CEBPB	chr3:60441935-60442142	HepG2	liver:	n/a	chr3:60441990-60442001 chr3:60441988-60441999 chr3:60441990-60441999 chr3:60441988-60442001
19	CEBPB	chr3:60502858-60503358	K562	blood:	n/a	chr3:60503042-60503059 chr3:60503044-60503055
20	CEBPB	chr3:60528680-60529009	K562	blood:	n/a	n/a
21	CEBPB	chr3:60515719-60515918	K562	blood:	n/a	n/a
22	CEBPB	chr3:60473036-60473256	K562	blood:	n/a	chr3:60473083-60473094 chr3:60473083-60473092
23	CEBPB	chr3:60502880-60503221	IMR90	lung:	n/a	chr3:60503042-60503059 chr3:60503044-60503055
24	CEBPB	chr3:60502891-60503236	HepG2	liver:	n/a	chr3:60503042-60503059 chr3:60503044-60503055
25	CEBPB	chr3:60438816-60438988	H1-hESC	embryonic stem cell:	n/a	chr3:60438874-60438887
26	CEBPB	chr3:60438578-60438866	HepG2	liver:	n/a	n/a
27	CHD2	chr3:60490587-60490880	GM12878	blood:	n/a	n/a
28	CREB1	chr3:60490627-60490860	GM12878	blood:	n/a	n/a
29	CREB1	chr3:60490511-60490992	GM12878	blood:	n/a	n/a
30	CTCF	chr3:60522322-60522498	LNCaP	prostate:	n/a	n/a
31	CTCF	chr3:60529465-60529510	GM10266	blood:	n/a	n/a
32	CTCF	chr3:60522216-60522593	GM12878	blood:	n/a	n/a
33	CTCF	chr3:60513220-60513370	AG09309	skin:	n/a	n/a
34	CTCF	chr3:60522294-60522513	LNCaP	prostate:	n/a	n/a
35	CTCF	chr3:60460547-60460618	Lung_OC	lung:	n/a	n/a
36	CTCF	chr3:60513140-60513290	RPTEC	kidney:	n/a	n/a
37	CTCF	chr3:60513277-60513325	LNCaP	prostate:	n/a	n/a
38	CTCF	chr3:60513180-60513330	HMEC	breast:	n/a	n/a
39	CTCF	chr3:60512440-60512590	GM12867	blood:	n/a	chr3:60512516-60512524
40	CTCF	chr3:60513200-60513350	AG04449	skin:	n/a	n/a
41	CTCF	chr3:60448069-60448124	ProgFib	skin:	n/a	n/a
42	CTCF	chr3:60513240-60513390	AG10803	skin:	n/a	n/a
43	CTCF	chr3:60478338-60478356	Fibrobl	skin:	n/a	n/a
44	CTCF	chr3:60513280-60513430	AG10803	skin:	n/a	n/a
45	CTCF	chr3:60478295-60478332	MCF-7	breast:	n/a	n/a
46	CUX1	chr3:60506192-60506525	K562	blood:	n/a	n/a
47	CUX1	chr3:60490595-60490956	GM12878	blood:	n/a	n/a
48	CUX1	chr3:60509642-60509786	K562	blood:	n/a	n/a
49	E2F4	chr3:60477364-60477626	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr3:60488480-60488559	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:60476221..60479058-chr3:60482642..60484706,2	K562	blood:
2	chr3:60467604..60470651-chr3:60470930..60473335,3	K562	blood:
3	chr3:60475674..60478079-chr3:60479619..60482202,2	K562	blood:
4	chr3:60483853..60486464-chr3:60489187..60492049,2	K562	blood:
5	chr3:60503536..60506034-chr3:60508761..60510926,2	K562	blood:
6	chr3:60488135..60490633-chr3:60491194..60494068,2	K562	blood:
7	chr3:60467604..60470651-chr3:60470930..60473335,3	K562	blood:
8	chr3:60488135..60490633-chr3:60491194..60494068,2	K562	blood:
9	chr3:60500352..60502884-chr3:60536251..60537952,2	K562	blood:
10	chr3:60483853..60486464-chr3:60489187..60492049,2	K562	blood:
11	chr3:60475674..60478079-chr3:60479619..60482202,2	K562	blood:
12	chr3:60486499..60489215-chr3:60499142..60502130,2	K562	blood:
13	chr3:60502053..60505036-chr3:60509426..60512103,2	K562	blood:
14	chr3:60468425..60470651-chr3:60470930..60473335,2	K562	blood:
15	chr3:60506754..60508368-chr3:60516500..60519417,2	K562	blood:
16	chr3:60506754..60508368-chr3:60516500..60519417,2	K562	blood:
17	chr3:60435518..60437406-chr3:60439396..60441037,2	K562	blood:
18	chr3:60502053..60505036-chr3:60509426..60512103,2	K562	blood:
19	chr3:60492215..60494697-chr3:60503496..60505338,2	K562	blood:
20	chr3:60503536..60506034-chr3:60508761..60510926,2	K562	blood:
21	chr3:60476221..60479058-chr3:60482642..60484706,2	K562	blood:
22	chr3:60263321..60265309-chr3:60503721..60505576,2	K562	blood:
23	chr3:60509060..60510930-chr3:60511428..60512938,2	K562	blood:
24	chr3:60486499..60489215-chr3:60499142..60502130,2	K562	blood:
25	chr3:60492215..60494697-chr3:60503496..60505338,2	K562	blood:
26	chr3:60468425..60470651-chr3:60470930..60473335,2	K562	blood:
27	chr3:60509060..60510930-chr3:60511428..60512938,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FEZF2-9	chr3:60521543-60522712	NONHSAT090160

No data

Variant related genes	Relation type
FHIT	TF binding region

Extended variants
information (count: 2368 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2368 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17063156	chr3:60439043-60439044	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555077706	chr3:60439069-60439070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187632423	chr3:60439104-60439105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145742038	chr3:60439117-60439118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116406973	chr3:60439145-60439146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs386661488	chr3:60439169-60439170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73836738	chr3:60439171-60439172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557057433	chr3:60439178-60439179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192149537	chr3:60439181-60439182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75379054	chr3:60439186-60439187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561342125	chr3:60439206-60439207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528598550	chr3:60439213-60439214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373718951	chr3:60439222-60439223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540825404	chr3:60439247-60439248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559538695	chr3:60439251-60439252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367784822	chr3:60439255-60439256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138406311	chr3:60439302-60439303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551681970	chr3:60439312-60439313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184455136	chr3:60439321-60439322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530391225	chr3:60439327-60439328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs398322	chr3:60439331-60439332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529507525	chr3:60439339-60439340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534756004	chr3:60439370-60439371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553289340	chr3:60439381-60439382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373701441	chr3:60441811-60441812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551441929	chr3:60441835-60441836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs104795	chr3:60441859-60441860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572513814	chr3:60441868-60441869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544792873	chr3:60441873-60441874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73836740	chr3:60441879-60441880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188157100	chr3:60441917-60441918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531894737	chr3:60441938-60441939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549757509	chr3:60441947-60441948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150809364	chr3:60441957-60441958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561796385	chr3:60441963-60441964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151247650	chr3:60441998-60441999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372756682	chr3:60442016-60442017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571696548	chr3:60442021-60442022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374737591	chr3:60442027-60442028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192386103	chr3:60442059-60442060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547606641	chr3:60442094-60442095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566178652	chr3:60442096-60442097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183926883	chr3:60442110-60442111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552350643	chr3:60442142-60442143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570718305	chr3:60442169-60442170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188207625	chr3:60442194-60442195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139558435	chr3:60442206-60442207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144278208	chr3:60442240-60442241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535448711	chr3:60442284-60442285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377319	chr3:60442322-60442323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Cancer	18162546	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Gastric cancer	22315472	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60439000-60439400	Enhancers	Fetal Intestine Large	intestine
2	chr3:60441800-60442400	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr3:60442000-60442400	Enhancers	Primary T cells from cord blood	blood
4	chr3:60446400-60448000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:60446600-60447600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:60446800-60447600	Enhancers	Adipose Nuclei	Adipose
7	chr3:60447200-60447800	Enhancers	Fetal Muscle Leg	muscle
8	chr3:60448400-60448600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:60448400-60448800	Enhancers	Pancreas	Pancrea
10	chr3:60449200-60449600	Enhancers	Fetal Intestine Large	intestine
11	chr3:60449200-60450000	Enhancers	Duodenum Mucosa	Duodenum
12	chr3:60449200-60450000	Enhancers	Fetal Intestine Small	intestine
13	chr3:60449200-60450000	Enhancers	Stomach Mucosa	stomach
14	chr3:60454600-60455400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:60454600-60455400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:60454800-60455400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:60455000-60455600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:60455400-60458600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:60455600-60458800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:60458600-60458800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:60458600-60459200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:60458800-60459200	Enhancers	Brain Germinal Matrix	brain
23	chr3:60458800-60459400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:60458800-60459400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:60459400-60461600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:60459400-60462000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:60460800-60462200	Enhancers	Fetal Heart	heart
28	chr3:60461200-60461600	Enhancers	Left Ventricle	heart
29	chr3:60461200-60461600	Enhancers	Right Atrium	heart
30	chr3:60461600-60462000	Weak transcription	Left Ventricle	heart
31	chr3:60462000-60462400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:60462000-60462600	Enhancers	Left Ventricle	heart
33	chr3:60462200-60464200	Weak transcription	Fetal Heart	heart
34	chr3:60463800-60464200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr3:60464200-60464600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr3:60464200-60464600	Enhancers	Fetal Heart	heart
37	chr3:60464400-60466400	Weak transcription	Ovary	ovary
38	chr3:60472200-60472400	Enhancers	Fetal Intestine Large	intestine
39	chr3:60472200-60472800	Enhancers	Fetal Intestine Small	intestine
40	chr3:60472400-60473200	Weak transcription	Fetal Intestine Large	intestine
41	chr3:60472800-60473800	Weak transcription	Fetal Intestine Small	intestine
42	chr3:60473200-60473800	Enhancers	Duodenum Mucosa	Duodenum
43	chr3:60473200-60474400	Enhancers	Fetal Intestine Large	intestine
44	chr3:60473400-60473800	Enhancers	Fetal Heart	heart
45	chr3:60473800-60474200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:60473800-60474400	Enhancers	Gastric	stomach
47	chr3:60474000-60474200	Enhancers	Fetal Intestine Small	intestine
48	chr3:60483200-60484000	Enhancers	Brain Germinal Matrix	brain
49	chr3:60483400-60483800	Enhancers	Fetal Lung	lung
50	chr3:60483400-60485000	Enhancers	Fetal Heart	heart

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