Variant report

Variant	nsv517852
Chromosome Location	chr7:83782435-83794756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83771843..83774813-chr7:83782378..83785250,2	K562	blood:

Extended variants
information (count: 438 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7781152	chr7:83782435-83782436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565028194	chr7:83782490-83782491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530416664	chr7:83782501-83782502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539894961	chr7:83782516-83782517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558587717	chr7:83782583-83782584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146320929	chr7:83782596-83782597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75249612	chr7:83782607-83782608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562642679	chr7:83782609-83782610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372949672	chr7:83782612-83782613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116379155	chr7:83782627-83782628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139625366	chr7:83782633-83782634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187977231	chr7:83782716-83782717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191961813	chr7:83782758-83782759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183183199	chr7:83782777-83782778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575287464	chr7:83782816-83782817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17158675	chr7:83782839-83782840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
17	rs144083507	chr7:83782845-83782846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546359482	chr7:83782860-83782861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549892425	chr7:83782904-83782905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373331642	chr7:83782965-83782966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568299246	chr7:83782992-83782993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187170685	chr7:83783026-83783027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571631921	chr7:83783053-83783054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191874841	chr7:83783149-83783150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554187205	chr7:83783152-83783153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574030624	chr7:83783156-83783157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145011137	chr7:83783158-83783159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80223481	chr7:83783198-83783199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149095321	chr7:83783199-83783200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536539445	chr7:83783203-83783204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540132613	chr7:83783271-83783272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558550267	chr7:83783319-83783320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184406483	chr7:83783324-83783325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537916748	chr7:83783384-83783385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556336915	chr7:83783413-83783414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574573629	chr7:83783439-83783440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541616059	chr7:83783483-83783484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35568030	chr7:83783493-83783494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560308150	chr7:83783572-83783573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574709061	chr7:83783587-83783588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114100690	chr7:83783637-83783638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556333214	chr7:83783673-83783674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187499312	chr7:83783684-83783685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192764413	chr7:83783715-83783716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185388668	chr7:83783719-83783720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73380837	chr7:83783721-83783722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs200167870	chr7:83783723-83783724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529390948	chr7:83783825-83783826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547631654	chr7:83783835-83783836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142207385	chr7:83783848-83783849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83770800-83795000	Weak transcription	NHDF-Ad	bronchial
2	chr7:83775400-83791600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:83776800-83784800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:83777000-83803000	Weak transcription	NHLF	lung
5	chr7:83778000-83803000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:83778600-83784400	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:83779400-83791600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:83780000-83786200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:83780000-83786400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:83780000-83786400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:83780000-83786600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:83780200-83786600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:83781400-83784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:83782200-83782800	Enhancers	Fetal Lung	lung
15	chr7:83782200-83782800	Enhancers	Rectal Smooth Muscle	rectum
16	chr7:83782400-83782800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:83782400-83782800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:83782400-83783000	Enhancers	Fetal Heart	heart
19	chr7:83782800-83784200	Weak transcription	Fetal Lung	lung
20	chr7:83782800-83784200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:83782800-83784400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:83782800-83784400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:83783000-83788800	Weak transcription	Fetal Heart	heart
24	chr7:83784200-83786600	Enhancers	Rectal Smooth Muscle	rectum
25	chr7:83784200-83787200	Enhancers	Fetal Lung	lung
26	chr7:83784400-83784600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:83784400-83784800	Enhancers	Colon Smooth Muscle	Colon
28	chr7:83784400-83785000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:83784400-83785000	Enhancers	Stomach Smooth Muscle	stomach
30	chr7:83784400-83785200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:83784400-83785200	Enhancers	Fetal Stomach	stomach
32	chr7:83784600-83784800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:83784600-83785000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:83784800-83785000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:83784800-83785000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr7:83784800-83786200	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:83784800-83787000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:83785000-83786600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:83785000-83789000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:83785000-83791600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:83785000-83803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:83785200-83790600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:83785200-83790800	Weak transcription	Fetal Stomach	stomach
44	chr7:83785800-83786600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:83786200-83786600	Enhancers	Colon Smooth Muscle	Colon
46	chr7:83786200-83787200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:83786400-83787000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr7:83786400-83787000	Enhancers	NH-A	brain
49	chr7:83786400-83787200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:83786400-83787200	Enhancers	HUES48 Cell Line	embryonic stem cell

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