Variant report

Variant	nsv830917
Chromosome Location	chr7:18612436-18817712
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:18660297..18663187-chr7:18673781..18676106,2	K562	blood:
2	chr7:18395478..18396447-chr7:18705774..18706398,3	K562	blood:
3	chr7:18614577..18617319-chr7:18617831..18619688,2	MCF-7	breast:
4	chr7:18630158..18631096-chr7:19704896..19705753,2	MCF-7	breast:
5	chr7:18689697..18691211-chr7:18699819..18701620,2	K562	blood:
6	chr7:18630127..18630658-chr7:18705450..18706373,2	MCF-7	breast:
7	chr7:18614577..18617319-chr7:18617831..18619688,2	MCF-7	breast:
8	chr7:18630127..18630658-chr7:18705450..18706373,2	MCF-7	breast:
9	chr7:18700553..18702239-chr7:18705669..18708088,2	K562	blood:
10	chr7:18690936..18692925-chr7:18694427..18697418,2	K562	blood:
11	chr7:18754975..18757924-chr7:18766761..18768655,2	K562	blood:
12	chr7:18690936..18692925-chr7:18694427..18697418,2	K562	blood:
13	chr7:18732759..18733606-chr7:19591000..19591516,2	MCF-7	breast:
14	chr10:32217365..32218064-chr7:18706793..18707389,2	HCT-116	colon:
15	chr7:18754975..18757924-chr7:18766761..18768655,2	K562	blood:
16	chr7:18700553..18702239-chr7:18705669..18708088,2	K562	blood:
17	chr7:18660297..18663187-chr7:18673781..18676106,2	K562	blood:
18	chr7:18689697..18691211-chr7:18699819..18701620,2	K562	blood:
19	chr7:18764685..18767468-chr7:18769074..18771376,2	K562	blood:
20	chr7:18764685..18767468-chr7:18769074..18771376,2	K562	blood:
21	chr7:18732720..18733608-chr7:19091484..19092067,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165322	chromatin interactions

Extended variants
information (count: 8649 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:8649 , 50 per page) page: 1 2 3 4 5 6 7 ... 173

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145905085	chr7:18612458-18612459	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188313185	chr7:18612537-18612538	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543674980	chr7:18612566-18612567	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564561383	chr7:18612580-18612581	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531934807	chr7:18612699-18612700	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540736095	chr7:18612731-18612732	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138314865	chr7:18612756-18612757	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529748902	chr7:18612761-18612762	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573150261	chr7:18612803-18612804	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569733800	chr7:18612808-18612809	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116724433	chr7:18612841-18612842	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140991437	chr7:18612884-18612885	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374514965	chr7:18612945-18612946	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549502018	chr7:18612952-18612953	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150182788	chr7:18612957-18612958	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539078939	chr7:18613036-18613037	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535307802	chr7:18613047-18613048	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191250460	chr7:18613055-18613056	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114685169	chr7:18613116-18613117	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74321818	chr7:18613126-18613127	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555160815	chr7:18613143-18613144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576203538	chr7:18613155-18613156	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183773380	chr7:18613160-18613161	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112043512	chr7:18613168-18613169	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188449203	chr7:18613211-18613212	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569680110	chr7:18613219-18613220	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540670331	chr7:18613229-18613230	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77875507	chr7:18613231-18613232	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529829204	chr7:18613244-18613245	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10252543	chr7:18613265-18613266	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs138730529	chr7:18613368-18613369	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192474943	chr7:18613369-18613370	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532357291	chr7:18613458-18613459	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552393209	chr7:18613505-18613506	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185802615	chr7:18613523-18613524	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528374607	chr7:18613533-18613534	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547807630	chr7:18613538-18613539	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117582192	chr7:18613543-18613544	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149423362	chr7:18613575-18613576	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147530767	chr7:18613582-18613583	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569926280	chr7:18613583-18613584	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534862155	chr7:18613593-18613594	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79197728	chr7:18613603-18613604	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115490748	chr7:18613630-18613631	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534991333	chr7:18613659-18613660	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1633982	chr7:18613702-18613703	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs189879484	chr7:18613721-18613722	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557077843	chr7:18613736-18613737	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371591410	chr7:18613779-18613780	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138581963	chr7:18613811-18613812	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Hepatocellular carcinoma	22267523	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1440 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18581600-18620200	Weak transcription	HSMMtube	muscle
2	chr7:18596800-18612600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:18598600-18613000	Weak transcription	Spleen	Spleen
4	chr7:18599000-18613200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:18599000-18613200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:18600400-18613200	Weak transcription	Right Ventricle	heart
7	chr7:18600600-18613200	Weak transcription	Left Ventricle	heart
8	chr7:18600600-18617600	Weak transcription	Psoas Muscle	Psoas
9	chr7:18601600-18613800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:18605000-18613000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:18605200-18613000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:18605200-18613000	Weak transcription	Right Atrium	heart
13	chr7:18605400-18620200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:18606800-18613000	Weak transcription	Gastric	stomach
15	chr7:18606800-18613200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr7:18606800-18616000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:18606800-18616800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:18606800-18620600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:18606800-18631400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:18607000-18614400	Weak transcription	HMEC	breast
21	chr7:18607000-18615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:18607000-18630000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:18610200-18613000	Enhancers	Primary B cells from peripheral blood	blood
24	chr7:18610600-18612600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:18610600-18613000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:18610600-18615200	Weak transcription	Fetal Brain Male	brain
27	chr7:18610600-18616400	Weak transcription	Fetal Heart	heart
28	chr7:18610600-18620400	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:18610600-18629800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:18610800-18615600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:18610800-18629600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:18611000-18613400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:18611000-18613600	Weak transcription	Fetal Brain Female	brain
34	chr7:18611000-18620200	Weak transcription	Brain Substantia Nigra	brain
35	chr7:18611200-18613600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:18611200-18620400	Weak transcription	Brain Germinal Matrix	brain
37	chr7:18611400-18612600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:18611600-18613000	Weak transcription	Aorta	Aorta
39	chr7:18611600-18613200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:18611600-18613800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:18611600-18633000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:18612000-18613200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:18612400-18613200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr7:18612400-18613200	Enhancers	Brain Angular Gyrus	brain
45	chr7:18612400-18613200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr7:18612400-18613600	Weak transcription	Fetal Stomach	stomach
47	chr7:18612600-18612800	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr7:18612600-18613000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr7:18613000-18613200	Enhancers	Fetal Muscle Leg	muscle
50	chr7:18613000-18613200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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