Variant report

Variant	nsv971167
Chromosome Location	chr7:16174475-16196736
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	chr7:16174593..16177204-chr7:16180297..16182169,2	K562	blood:
2	chr7:16179426..16181583-chr7:16183166..16185185,2	K562	blood:
3	chr7:16175890..16178369-chr7:16460107..16462203,3	K562	blood:
4	chr7:16192281..16194569-chr7:16210731..16212589,2	K562	blood:
5	chr7:16195841..16198251-chr7:16237665..16240574,2	K562	blood:
6	chr7:16175890..16178369-chr7:16460107..16461891,2	K562	blood:
7	chr7:16174593..16177204-chr7:16180297..16182169,2	K562	blood:
8	chr7:16182339..16184575-chr7:16186755..16189879,4	K562	blood:
9	chr7:16179426..16181583-chr7:16183166..16185185,2	K562	blood:
10	chr7:16182339..16184575-chr7:16186755..16189879,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214960	chromatin interactions

Extended variants
information (count: 496 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541532319	chr7:16174547-16174548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565261535	chr7:16174572-16174573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74219081	chr7:16174613-16174614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7785930	chr7:16174667-16174668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575083726	chr7:16174684-16174685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374105957	chr7:16174710-16174711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528428095	chr7:16174713-16174714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73681738	chr7:16174723-16174724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561835172	chr7:16174740-16174741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192735811	chr7:16174781-16174782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111325847	chr7:16174813-16174814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550760664	chr7:16174816-16174817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533132521	chr7:16174832-16174833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184612064	chr7:16174920-16174921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28703222	chr7:16174921-16174922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140228146	chr7:16174978-16174979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145391103	chr7:16174997-16174998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534250425	chr7:16175002-16175003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371384967	chr7:16175031-16175032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555663717	chr7:16175182-16175183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567718237	chr7:16175185-16175186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376834730	chr7:16175282-16175283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34450457	chr7:16175315-16175316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74813849	chr7:16175326-16175327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556776015	chr7:16175386-16175387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575337191	chr7:16175390-16175391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549798951	chr7:16175442-16175443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545797649	chr7:16175481-16175482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs137935596	chr7:16175489-16175490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs758702	chr7:16175543-16175544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs188355638	chr7:16175570-16175571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562027895	chr7:16175616-16175617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529035721	chr7:16175622-16175623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192004054	chr7:16175631-16175632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562834713	chr7:16175640-16175641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533286528	chr7:16175771-16175772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532329764	chr7:16175804-16175805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184455140	chr7:16175818-16175819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78099853	chr7:16175867-16175868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565636175	chr7:16175900-16175901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527695390	chr7:16175927-16175928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549218127	chr7:16175988-16175989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567995510	chr7:16176002-16176003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538044697	chr7:16176006-16176007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373043347	chr7:16176027-16176028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs550382447	chr7:16176065-16176066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189281420	chr7:16176186-16176187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568835070	chr7:16176203-16176204	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs149087011	chr7:16176233-16176234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200697822	chr7:16176234-16176235	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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
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	19492091	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16169800-16183800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:16170800-16174800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:16170800-16175400	Weak transcription	HSMMtube	muscle
4	chr7:16171000-16174800	Weak transcription	NHDF-Ad	bronchial
5	chr7:16171400-16175400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:16171800-16174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:16174400-16175800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:16174800-16175200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:16174800-16175600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:16174800-16176800	Enhancers	NHDF-Ad	bronchial
11	chr7:16175400-16175800	Enhancers	HSMMtube	muscle
12	chr7:16175400-16176600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:16178800-16183800	Weak transcription	Pancreas	Pancrea
14	chr7:16180400-16181800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:16180400-16181800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:16183600-16183800	Enhancers	Placenta	Placenta
17	chr7:16183600-16184800	Enhancers	A549	lung
18	chr7:16183800-16184200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr7:16183800-16184800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:16183800-16184800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:16183800-16184800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr7:16183800-16184800	ZNF genes & repeats	Pancreas	Pancrea
23	chr7:16183800-16185000	ZNF genes & repeats	Placenta	Placenta
24	chr7:16184000-16185800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:16184200-16185000	ZNF genes & repeats	Fetal Lung	lung
26	chr7:16184600-16185000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:16184600-16185000	ZNF genes & repeats	Gastric	stomach
28	chr7:16185000-16187000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:16190000-16191000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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