Variant report

Variant	esv3323579
Chromosome Location	chr7:12775627-12777575
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:0)
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	chr7:12775054..12776736-chr7:12793008..12795288,3	K562	blood:
2	chr7:12729128..12735523-chr7:12765929..12775781,12	K562	blood:
3	chr7:12752442..12758611-chr7:12777091..12782449,9	K562	blood:
4	chr7:12774986..12777749-chr7:12783084..12785237,2	K562	blood:
5	chr7:12776917..12778957-chr7:13100732..13103715,2	MCF-7	breast:
6	chr7:12773603..12776314-chr7:12785559..12788472,3	K562	blood:
7	chr7:12773325..12775846-chr7:12777370..12779405,2	K562	blood:
8	chr7:12775054..12776662-chr7:12793532..12795288,2	K562	blood:
9	chr7:12773325..12775846-chr7:12777370..12779405,2	K562	blood:
10	chr7:12724508..12727621-chr7:12776634..12778464,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271253	chromatin interactions
ENSG00000122644	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117418887	chr7:12775672-12775673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557071503	chr7:12775673-12775674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13247588	chr7:12775690-12775691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551464745	chr7:12775696-12775697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78782634	chr7:12775705-12775706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115623318	chr7:12775711-12775712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148191245	chr7:12775724-12775725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545154906	chr7:12775745-12775746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565140160	chr7:12775757-12775758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11980770	chr7:12775758-12775759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11980726	chr7:12775793-12775794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372918095	chr7:12775809-12775810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557359721	chr7:12775818-12775819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560705625	chr7:12775832-12775833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529663930	chr7:12775841-12775842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34903132	chr7:12775843-12775844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560250264	chr7:12775867-12775868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369608733	chr7:12775930-12775931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11984405	chr7:12775939-12775940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190156860	chr7:12775944-12775945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114576328	chr7:12775951-12775952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562040508	chr7:12775994-12775995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181165182	chr7:12776011-12776012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72530828	chr7:12776013-12776014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9689964	chr7:12776036-12776037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190884567	chr7:12776048-12776049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113443283	chr7:12776068-12776069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189252532	chr7:12776074-12776075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369273774	chr7:12776075-12776076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34381828	chr7:12776089-12776090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs9690596	chr7:12776147-12776148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs112976820	chr7:12776207-12776208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563345396	chr7:12776241-12776242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9691887	chr7:12776243-12776244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146154777	chr7:12776250-12776251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183158069	chr7:12776257-12776258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6944782	chr7:12776283-12776284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560238011	chr7:12776349-12776350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78917466	chr7:12776379-12776380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545956655	chr7:12776404-12776405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9690109	chr7:12776426-12776427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs55637319	chr7:12776442-12776443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs202150372	chr7:12776455-12776456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71030528	chr7:12776473-12776474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376879483	chr7:12776500-12776501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34473060	chr7:12776501-12776502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71030529	chr7:12776502-12776503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56076858	chr7:12776503-12776504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534924843	chr7:12776515-12776516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9692011	chr7:12776525-12776526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12771200-12789400	Weak transcription	Psoas Muscle	Psoas
2	chr7:12772000-12777000	Weak transcription	Hela-S3	cervix
3	chr7:12774600-12777000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:12775400-12777000	Weak transcription	K562	blood
5	chr7:12776800-12777400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:12776800-12778000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:12777000-12777400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:12777000-12777400	Enhancers	Fetal Stomach	stomach
9	chr7:12777000-12777400	Enhancers	Hela-S3	cervix
10	chr7:12777000-12777800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:12777000-12778200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:12777000-12778400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr7:12777000-12778600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr7:12777000-12778600	Enhancers	Adipose Nuclei	Adipose
15	chr7:12777000-12778600	Flanking Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links