Variant report

Variant	nsv1034059
Chromosome Location	chr7:12342549-12367818
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12248340..12250610-chr7:12341759..12344659,2	K562	blood:
2	chr7:12251087..12251775-chr7:12361635..12362202,4	MCF-7	breast:
3	chr7:12362049..12364322-chr7:12365857..12368217,3	K562	blood:
4	chr7:12249029..12251264-chr7:12355308..12358122,2	MCF-7	breast:
5	chr7:12362049..12364322-chr7:12365857..12368217,3	K562	blood:
6	chr7:12353391..12355072-chr7:12357011..12359494,3	K562	blood:
7	chr7:12353391..12355072-chr7:12357011..12359494,3	K562	blood:
8	chr7:12365317..12367228-chr7:12375967..12378342,2	K562	blood:
9	chr7:12106923..12107696-chr7:12361667..12362587,3	MCF-7	breast:
10	chr7:12249110..12251929-chr7:12341759..12344024,2	K562	blood:
11	chr7:12356830..12359604-chr7:12404989..12406571,2	K562	blood:
12	chr7:12363684..12366465-chr7:12393124..12396040,2	K562	blood:
13	chr7:12351255..12355072-chr7:12355211..12359779,5	K562	blood:
14	chr7:12359785..12361369-chr7:12363361..12365480,2	K562	blood:
15	chr7:12359587..12361942-chr7:12364993..12366787,2	K562	blood:
16	chr7:12362078..12365720-chr7:12370304..12373327,3	K562	blood:
17	chr7:12359785..12361369-chr7:12363361..12365480,2	K562	blood:
18	chr7:12354059..12356452-chr7:12416852..12418898,2	K562	blood:
19	chr7:12351255..12355072-chr7:12355211..12359779,5	K562	blood:
20	chr7:12359587..12361942-chr7:12364993..12366787,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VWDE-5	chr7:12360180-12360643	expReg_chr7_1116_-

No data

Variant related genes	Relation type
ENSG00000106460	chromatin interactions

Extended variants
information (count: 1271 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1271 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149192134	chr7:12342566-12342567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373330653	chr7:12342567-12342568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558404418	chr7:12342577-12342578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs1079506	chr7:12342641-12342642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs374877617	chr7:12342701-12342702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377698398	chr7:12342756-12342757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560919508	chr7:12342781-12342782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374631971	chr7:12342782-12342783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574500001	chr7:12342844-12342845	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539932921	chr7:12342845-12342846	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181843059	chr7:12342850-12342851	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368810658	chr7:12342863-12342864	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544206206	chr7:12342937-12342938	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532114671	chr7:12342943-12342944	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111588958	chr7:12342972-12342973	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552905663	chr7:12342982-12342983	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4721083	chr7:12343003-12343004	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs368155450	chr7:12343023-12343024	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532033514	chr7:12343077-12343078	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76718744	chr7:12343078-12343079	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537912026	chr7:12343128-12343129	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534336486	chr7:12343137-12343138	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547540628	chr7:12343138-12343139	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10254029	chr7:12343148-12343149	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539403817	chr7:12343232-12343233	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184855514	chr7:12343242-12343243	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556603106	chr7:12343256-12343257	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143326493	chr7:12343270-12343271	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554781739	chr7:12343285-12343286	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs368369456	chr7:12343297-12343298	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs34655053	chr7:12343391-12343392	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574510620	chr7:12343395-12343396	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148328903	chr7:12343424-12343425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532132081	chr7:12343446-12343447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs13238787	chr7:12343452-12343453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12673036	chr7:12343463-12343464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs376826528	chr7:12343475-12343476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545854360	chr7:12343492-12343493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562463991	chr7:12343502-12343503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532072058	chr7:12343509-12343510	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112528059	chr7:12343550-12343551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111489140	chr7:12343581-12343582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141459951	chr7:12343585-12343586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs79261283	chr7:12343615-12343616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181500143	chr7:12343637-12343638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570574131	chr7:12343653-12343654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs6969825	chr7:12343656-12343657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs111893387	chr7:12343657-12343658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187029632	chr7:12343705-12343706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569695694	chr7:12343740-12343741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Multiple myeloma	17550852	CNVD
Schizophrenia	23813976	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12338400-12359200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:12339600-12360000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:12342000-12342800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:12342000-12342800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:12342200-12342600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:12342200-12342600	Enhancers	Esophagus	oesophagus
7	chr7:12342200-12343600	Enhancers	NHEK	skin
8	chr7:12342200-12343800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:12342400-12343600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:12342400-12343600	Enhancers	HMEC	breast
11	chr7:12342800-12343000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:12342800-12343200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:12342800-12343400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:12342800-12343400	Enhancers	Brain Germinal Matrix	brain
15	chr7:12342800-12343600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:12342800-12343600	Enhancers	NH-A	brain
17	chr7:12343000-12343200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:12343000-12343200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:12343000-12343400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:12343200-12343400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:12343200-12343400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:12343400-12343600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:12343400-12343600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:12350600-12353400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:12351000-12367600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:12351200-12352200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:12351800-12352000	Weak transcription	K562	blood
28	chr7:12352000-12352200	Enhancers	K562	blood
29	chr7:12352200-12360600	Weak transcription	K562	blood
30	chr7:12354000-12354400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:12354200-12354800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr7:12354400-12405000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:12354800-12364800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr7:12356600-12358000	Enhancers	Fetal Intestine Large	intestine
35	chr7:12356800-12357200	Enhancers	Fetal Intestine Small	intestine
36	chr7:12357000-12357800	Enhancers	Duodenum Mucosa	Duodenum
37	chr7:12357200-12358600	Weak transcription	Fetal Intestine Small	intestine
38	chr7:12357600-12358000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:12358000-12361800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:12358600-12358800	Enhancers	Fetal Intestine Small	intestine
41	chr7:12358600-12358800	Enhancers	Gastric	stomach
42	chr7:12358800-12359000	Bivalent Enhancer	Fetal Intestine Small	intestine
43	chr7:12360000-12360400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:12360000-12362400	Enhancers	A549	lung
45	chr7:12360200-12360400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:12360200-12360400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:12360200-12361000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:12360400-12362400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:12360400-12367600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:12360400-12367800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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