Variant report

Variant	nsv888625
Chromosome Location	chr7:83616528-83687622
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:83663877..83666822-chr7:83667215..83669958,2	K562	blood:
2	chr7:83663877..83666822-chr7:83667215..83669958,2	K562	blood:
3	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:
4	chr7:83644236..83646821-chr7:83830858..83833552,2	K562	blood:
5	chr7:83628708..83631589-chr7:83641659..83643876,2	MCF-7	breast:
6	chr7:83628708..83631589-chr7:83641659..83643876,2	MCF-7	breast:
7	chr7:83628560..83631062-chr7:83675861..83678781,2	MCF-7	breast:
8	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:
9	chr7:83628560..83631062-chr7:83675861..83678781,2	MCF-7	breast:

No data

Extended variants
information (count: 2884 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2884 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs740947	chr7:83616528-83616529	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141689509	chr7:83616561-83616562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531950347	chr7:83616563-83616564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550171829	chr7:83616588-83616589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182362427	chr7:83616682-83616683	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145764472	chr7:83616694-83616695	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554534122	chr7:83616745-83616746	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs797817	chr7:83616771-83616772	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533640086	chr7:83616854-83616855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574756539	chr7:83616865-83616866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79456473	chr7:83616904-83616905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200530837	chr7:83616911-83616912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201913120	chr7:83616913-83616914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544413651	chr7:83616918-83616919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116257974	chr7:83616924-83616925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574657662	chr7:83616993-83616994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371164654	chr7:83616994-83616995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560532446	chr7:83617036-83617037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187742298	chr7:83617043-83617044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546278182	chr7:83617053-83617054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142064387	chr7:83617102-83617103	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76141401	chr7:83617107-83617108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375427118	chr7:83617117-83617118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138413870	chr7:83617166-83617167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143017707	chr7:83617196-83617197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146150230	chr7:83617225-83617226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562179525	chr7:83617236-83617237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10272716	chr7:83617294-83617295	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546316243	chr7:83617323-83617324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78289476	chr7:83617372-83617373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192553609	chr7:83617373-83617374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533554082	chr7:83617413-83617414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551823274	chr7:83617414-83617415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200261438	chr7:83617436-83617437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371834965	chr7:83617438-83617439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537574861	chr7:83617466-83617467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561726540	chr7:83617469-83617470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201577862	chr7:83617471-83617472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376877973	chr7:83617505-83617506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199843737	chr7:83617521-83617522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184365684	chr7:83617528-83617529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548570578	chr7:83617569-83617570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535692775	chr7:83617581-83617582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561986618	chr7:83617585-83617586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554115684	chr7:83617604-83617605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188574790	chr7:83617605-83617606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374818957	chr7:83617611-83617612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368099531	chr7:83617616-83617617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs797816	chr7:83617643-83617644	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs140037519	chr7:83617652-83617653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:699 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83588800-83624600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
3	chr7:83589200-83616600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:83591000-83624200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:83591000-83633800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:83591200-83634200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:83591200-83638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:83591800-83624600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:83592600-83626400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:83606000-83654000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:83606200-83643200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:83609800-83650400	Weak transcription	NHLF	lung
14	chr7:83610200-83642200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:83610200-83673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:83611400-83617000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:83611600-83624600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:83612200-83617600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:83612200-83626400	Weak transcription	NHDF-Ad	bronchial
20	chr7:83613800-83624600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:83614000-83617000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:83614000-83625600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:83615000-83618000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:83616200-83624600	Weak transcription	Fetal Lung	lung
25	chr7:83616200-83624800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:83616600-83616800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:83617000-83617200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:83617000-83624400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:83617200-83625200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:83617600-83622000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:83618000-83624200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:83622000-83622200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:83622200-83624600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:83622800-83643200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:83623600-83634200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:83624000-83624400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:83624200-83624600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr7:83624200-83624600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:83624400-83624600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:83624400-83628000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:83624400-83651600	Weak transcription	Fetal Intestine Small	intestine
42	chr7:83624600-83625000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:83624600-83625000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr7:83624600-83625200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:83624600-83625400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr7:83624600-83625400	Strong transcription	Fetal Lung	lung
47	chr7:83624600-83625600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:83624600-83625600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:83624600-83628000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:83624600-83629000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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