Variant report

Variant	esv3375982
Chromosome Location	chr7:13240761-13261613
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12713108..12716058-chr7:13259369..13262315,2	K562	blood:
2	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
3	chr7:13255952..13258351-chr7:13261908..13263917,2	K562	blood:
4	chr7:12869802..12871805-chr7:13260631..13263120,2	K562	blood:
5	chr7:13256179..13258568-chr7:13261397..13264714,3	K562	blood:
6	chr7:13232632..13234928-chr7:13240962..13243644,2	K562	blood:
7	chr7:13234900..13236421-chr7:13245231..13247186,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-1	chr7:13257170-13257293	XLOC_005988

No data

Extended variants
information (count: 704 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:704 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76272711	chr7:13240817-13240818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559464635	chr7:13240825-13240826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370772498	chr7:13240832-13240833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528325561	chr7:13240863-13240864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189104154	chr7:13240875-13240876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193026876	chr7:13240876-13240877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530714934	chr7:13240949-13240950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551897348	chr7:13240977-13240978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550809034	chr7:13241023-13241024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185361645	chr7:13241032-13241033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569963807	chr7:13241057-13241058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs725435	chr7:13241058-13241059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534442665	chr7:13241093-13241094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs725436	chr7:13241103-13241104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565819703	chr7:13241134-13241135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143620602	chr7:13241140-13241141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs118011559	chr7:13241155-13241156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373630436	chr7:13241171-13241172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35320833	chr7:13241228-13241229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199797941	chr7:13241238-13241239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189038023	chr7:13241242-13241243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543769896	chr7:13241253-13241254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10232486	chr7:13241265-13241266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs573703195	chr7:13241272-13241273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80307187	chr7:13241293-13241294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542626521	chr7:13241390-13241391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539672496	chr7:13241396-13241397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374454362	chr7:13241406-13241407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559528010	chr7:13241410-13241411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367693718	chr7:13241419-13241420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572968614	chr7:13241442-13241443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545074018	chr7:13241468-13241469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200344280	chr7:13241475-13241476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75426319	chr7:13241485-13241486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114817440	chr7:13241496-13241497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192019554	chr7:13241509-13241510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372219767	chr7:13241510-13241511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184126986	chr7:13241516-13241517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116017398	chr7:13241541-13241542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138183248	chr7:13241552-13241553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372713944	chr7:13241560-13241561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534796321	chr7:13241571-13241572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113114998	chr7:13241583-13241584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377327945	chr7:13241590-13241591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200348653	chr7:13241591-13241592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377351707	chr7:13241592-13241593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116337062	chr7:13241593-13241594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377020739	chr7:13241609-13241610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188529005	chr7:13241613-13241614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs67193938	chr7:13241619-13241620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13240600-13241000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:13241000-13241600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:13241600-13243000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:13243000-13244400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:13250800-13251000	Enhancers	Pancreas	Pancrea
6	chr7:13251000-13258400	Weak transcription	Pancreas	Pancrea
7	chr7:13253800-13258600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:13256600-13257800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:13257200-13257600	Enhancers	Rectal Smooth Muscle	rectum
10	chr7:13257400-13258000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:13257400-13258200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:13257400-13258400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:13257800-13258200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:13257800-13258600	Enhancers	Colon Smooth Muscle	Colon
15	chr7:13258200-13258800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:13258400-13258600	Enhancers	Pancreas	Pancrea
17	chr7:13258600-13259200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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