Variant report

Variant	nsv981801
Chromosome Location	chr7:12848501-12854945
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12853166..12855784-chr7:12857906..12859818,2	K562	blood:
2	chr7:12847834..12849363-chr7:12852693..12855158,2	K562	blood:
3	chr7:12839807..12841884-chr7:12848614..12851118,2	K562	blood:
4	chr7:12732805..12735607-chr7:12848862..12851491,2	K562	blood:
5	chr7:12847834..12849363-chr7:12852693..12855158,2	K562	blood:
6	chr7:12725132..12728581-chr7:12853951..12856846,4	K562	blood:
7	chr7:12853864..12855585-chr7:12855723..12857729,3	K562	blood:
8	chr7:12848902..12851417-chr7:12852205..12854551,2	MCF-7	breast:
9	chr7:12757666..12759532-chr7:12853077..12856020,2	K562	blood:
10	chr7:12842993..12845876-chr7:12849067..12850592,2	K562	blood:
11	chr7:12844977..12847724-chr7:12851734..12854680,3	K562	blood:
12	chr7:12752598..12755770-chr7:12846803..12850536,3	K562	blood:
13	chr7:12848902..12851417-chr7:12852205..12854551,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271253	chromatin interactions
ENSG00000122644	chromatin interactions

Extended variants
information (count: 283 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559963278	chr7:12848517-12848518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188480185	chr7:12848527-12848528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10950417	chr7:12848552-12848553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551335906	chr7:12848565-12848566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180914596	chr7:12848566-12848567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530511042	chr7:12848567-12848568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146997789	chr7:12848620-12848621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10950418	chr7:12848623-12848624	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185975045	chr7:12848642-12848643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138201500	chr7:12848651-12848652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111559188	chr7:12848654-12848655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538605089	chr7:12848657-12848658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558176459	chr7:12848675-12848676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10950419	chr7:12848682-12848683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537447958	chr7:12848740-12848741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57275676	chr7:12848750-12848751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557463087	chr7:12848762-12848763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533308031	chr7:12848769-12848770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574197519	chr7:12848773-12848774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543760203	chr7:12848776-12848777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10278168	chr7:12848814-12848815	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559725508	chr7:12848824-12848825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529563476	chr7:12848843-12848844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573477415	chr7:12848892-12848893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12155420	chr7:12848893-12848894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191977098	chr7:12848930-12848931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147849384	chr7:12849014-12849015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570298408	chr7:12849015-12849016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530379382	chr7:12849095-12849096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566403654	chr7:12849184-12849185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537236799	chr7:12849191-12849192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117641155	chr7:12849223-12849224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529783430	chr7:12849257-12849258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546750489	chr7:12849263-12849264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144224470	chr7:12849274-12849275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183896117	chr7:12849303-12849304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186418826	chr7:12849306-12849307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190832944	chr7:12849328-12849329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182963834	chr7:12849340-12849341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537408774	chr7:12849342-12849343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557426358	chr7:12849347-12849348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549487387	chr7:12849372-12849373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536393782	chr7:12849471-12849472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148724226	chr7:12849478-12849479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573314995	chr7:12849479-12849480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368590634	chr7:12849481-12849482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569376274	chr7:12849508-12849509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141452548	chr7:12849582-12849583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187307333	chr7:12849583-12849584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543787758	chr7:12849585-12849586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12842600-12848800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:12842600-12849200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:12845600-12848800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:12845600-12849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:12845600-12849000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:12845800-12848800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:12845800-12849000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:12845800-12849000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:12845800-12849000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:12845800-12854400	Weak transcription	K562	blood
11	chr7:12846000-12848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:12846000-12848800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:12846000-12849000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:12846000-12849000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:12846000-12849000	Weak transcription	NHEK	skin
16	chr7:12846400-12848800	Weak transcription	HMEC	breast
17	chr7:12846800-12854800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:12848600-12849600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:12848800-12849400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:12848800-12849600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:12848800-12849600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:12848800-12849600	Enhancers	HMEC	breast
23	chr7:12848800-12849800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:12849000-12849400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:12849000-12849400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:12849000-12849400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:12849000-12849600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:12849000-12849600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:12849000-12849600	Enhancers	NHEK	skin
30	chr7:12849000-12849800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:12849000-12849800	Enhancers	Brain Germinal Matrix	brain
32	chr7:12849000-12850000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:12849000-12850200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:12849000-12850200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:12849200-12849400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:12849200-12849800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:12849400-12853200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:12849400-12853200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:12849400-12853600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:12849600-12853000	Weak transcription	NHEK	skin
41	chr7:12849600-12853200	Weak transcription	HMEC	breast
42	chr7:12849600-12853400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:12849600-12854400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:12850000-12856800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:12852800-12853600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:12853000-12853600	Enhancers	NHEK	skin
47	chr7:12853200-12854800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:12853200-12854800	Enhancers	HMEC	breast
49	chr7:12853200-12855200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:12853400-12853600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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