Variant report

Variant	esv2757873
Chromosome Location	chr3:61019003-61185558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:61167426..61169661-chr3:61171203..61172847,2	MCF-7	breast:
2	chr3:61167426..61169661-chr3:61171203..61172847,2	MCF-7	breast:
3	chr3:61014046..61015931-chr3:61016570..61019029,2	K562	blood:
4	chr3:61184785..61187640-chr3:61188232..61191230,2	K562	blood:
5	chr3:61113632..61115637-chr3:61116570..61118887,2	K562	blood:
6	chr3:61125383..61126228-chr3:61279414..61279942,2	MCF-7	breast:
7	chr3:61125268..61126228-chr3:61279400..61279942,3	MCF-7	breast:
8	chr3:61098237..61100054-chr3:61102293..61104555,2	MCF-7	breast:
9	chr3:61113632..61115637-chr3:61116570..61118887,2	K562	blood:
10	chr3:61098237..61100054-chr3:61102293..61104555,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FEZF2-9	chr3:61152646-61152715	NONHSAT090160
2	lnc-FEZF2-9	chr3:61151248-61151501	NONHSAT090160

No data

Extended variants
information (count: 6174 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:6174 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79850733	chr3:61019005-61019006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545264440	chr3:61019008-61019009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541509928	chr3:61019054-61019055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563480472	chr3:61019071-61019072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553675671	chr3:61019086-61019087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535212958	chr3:61019088-61019089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553567390	chr3:61019106-61019107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191334822	chr3:61019131-61019132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538914536	chr3:61019167-61019168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557335534	chr3:61019176-61019177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563289837	chr3:61019231-61019232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560917846	chr3:61019235-61019236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528216125	chr3:61019279-61019280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183519063	chr3:61019287-61019288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571207362	chr3:61019310-61019311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188776653	chr3:61019323-61019324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74584334	chr3:61019339-61019340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116113504	chr3:61019346-61019347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569492457	chr3:61019361-61019362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143190508	chr3:61019375-61019376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74958864	chr3:61019382-61019383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566601671	chr3:61019423-61019424	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534046470	chr3:61019428-61019429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558809044	chr3:61019476-61019477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141980781	chr3:61019499-61019500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372928143	chr3:61019528-61019529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544318769	chr3:61019536-61019537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6446177	chr3:61019619-61019620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575452193	chr3:61019628-61019629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542814933	chr3:61019656-61019657	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561082343	chr3:61019664-61019665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145673834	chr3:61019668-61019669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540309457	chr3:61019765-61019766	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575543103	chr3:61019800-61019801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193210495	chr3:61019810-61019811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138304829	chr3:61019816-61019817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550316474	chr3:61019853-61019854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569489571	chr3:61019865-61019866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530350961	chr3:61019880-61019881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185365129	chr3:61019885-61019886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35626537	chr3:61019907-61019908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75432959	chr3:61019966-61019967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78352990	chr3:61019998-61019999	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200447775	chr3:61020014-61020015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376482555	chr3:61020020-61020021	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558997368	chr3:61020046-61020047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529384830	chr3:61020065-61020066	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570864145	chr3:61020128-61020129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76202925	chr3:61020131-61020132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556304967	chr3:61020156-61020157	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61014200-61026400	Weak transcription	Psoas Muscle	Psoas
2	chr3:61015400-61019400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:61019400-61020400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:61020000-61028000	Weak transcription	Aorta	Aorta
5	chr3:61020400-61026000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:61023000-61023400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:61025200-61026400	Weak transcription	Ovary	ovary
8	chr3:61025600-61026600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:61026000-61026600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:61026200-61026600	Enhancers	HepG2	liver
11	chr3:61026400-61026800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:61026400-61026800	ZNF genes & repeats	Ovary	ovary
13	chr3:61026600-61028400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:61026800-61029000	Weak transcription	Ovary	ovary
15	chr3:61027000-61028800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr3:61027600-61040400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:61028400-61029200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr3:61029200-61029400	Weak transcription	Ovary	ovary
19	chr3:61033400-61033600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
20	chr3:61033600-61066600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr3:61038000-61038200	Enhancers	Pancreas	Pancrea
22	chr3:61038200-61039600	Weak transcription	Pancreas	Pancrea
23	chr3:61038400-61038600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:61038800-61039800	Enhancers	HepG2	liver
25	chr3:61039200-61039800	Enhancers	Small Intestine	intestine
26	chr3:61039600-61040600	Enhancers	Pancreas	Pancrea
27	chr3:61039800-61040200	Weak transcription	HepG2	liver
28	chr3:61040200-61040400	Enhancers	HepG2	liver
29	chr3:61040400-61040600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:61040400-61040800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:61040400-61041000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:61040400-61046000	Weak transcription	HepG2	liver
33	chr3:61040600-61042000	Weak transcription	Pancreas	Pancrea
34	chr3:61040800-61041800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:61042000-61042200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:61042000-61042200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:61042000-61042600	Enhancers	Pancreas	Pancrea
38	chr3:61042600-61043000	Weak transcription	Pancreas	Pancrea
39	chr3:61043000-61043600	Enhancers	Pancreas	Pancrea
40	chr3:61043600-61045400	Weak transcription	Pancreas	Pancrea
41	chr3:61043800-61044400	Enhancers	Fetal Kidney	kidney
42	chr3:61045400-61046400	Enhancers	Psoas Muscle	Psoas
43	chr3:61045400-61046600	Enhancers	Pancreas	Pancrea
44	chr3:61045400-61047000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:61046000-61046800	Enhancers	Fetal Lung	lung
46	chr3:61046000-61046800	Enhancers	NHEK	skin
47	chr3:61046000-61047000	Enhancers	HepG2	liver
48	chr3:61046200-61046400	Enhancers	Fetal Kidney	kidney
49	chr3:61046200-61046800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr3:61046200-61046800	Enhancers	Fetal Brain Male	brain

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