Variant report

Variant	nsv888626
Chromosome Location	chr7:83651854-83698177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:83628560..83631062-chr7:83675861..83678781,2	MCF-7	breast:
2	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:
3	chr7:83663877..83666822-chr7:83667215..83669958,2	K562	blood:
4	chr7:83663877..83666822-chr7:83667215..83669958,2	K562	blood:
5	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:

Extended variants
information (count: 1936 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1936 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6976211	chr7:83651854-83651855	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558703844	chr7:83651859-83651860	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs572140970	chr7:83651861-83651862	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549796080	chr7:83651866-83651867	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs546988765	chr7:83651877-83651878	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534323091	chr7:83652002-83652003	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568097198	chr7:83652018-83652019	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs369785898	chr7:83652042-83652043	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs78874263	chr7:83652058-83652059	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553875147	chr7:83652107-83652108	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs185698939	chr7:83652110-83652111	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs143576623	chr7:83652121-83652122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557977308	chr7:83652189-83652190	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs146789295	chr7:83652226-83652227	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140565407	chr7:83652293-83652294	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555317449	chr7:83652333-83652334	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs550898381	chr7:83652353-83652354	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs541040604	chr7:83652367-83652368	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs373066465	chr7:83652388-83652389	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs111878402	chr7:83652437-83652438	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs559550472	chr7:83652469-83652470	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs372707477	chr7:83652516-83652517	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs545272160	chr7:83652544-83652545	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs563951140	chr7:83652549-83652550	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs531216573	chr7:83652602-83652603	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs549726900	chr7:83652621-83652622	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs73376849	chr7:83652646-83652647	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528861372	chr7:83652648-83652649	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs547418821	chr7:83652651-83652652	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs565633643	chr7:83652666-83652667	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs539560372	chr7:83652743-83652744	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs551271703	chr7:83652765-83652766	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs75661474	chr7:83652809-83652810	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs189542445	chr7:83652857-83652858	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs11974894	chr7:83652875-83652876	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs144314727	chr7:83652880-83652881	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs572560785	chr7:83652935-83652936	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs534655159	chr7:83652944-83652945	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs553380420	chr7:83652955-83652956	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs578029319	chr7:83653024-83653025	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543350970	chr7:83653056-83653057	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562818952	chr7:83653064-83653065	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545521919	chr7:83653075-83653076	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563710448	chr7:83653076-83653077	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112970608	chr7:83653088-83653089	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57380303	chr7:83653127-83653128	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs58436795	chr7:83653136-83653137	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs143158299	chr7:83653154-83653155	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528840864	chr7:83653185-83653186	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547067737	chr7:83653197-83653198	Weak transcription Strong transcription ZNF genes & repeats Enhancers	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:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
2	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:83606000-83654000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:83610200-83673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:83634800-83652000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:83634800-83654600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:83635000-83654400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:83636200-83654800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:83638600-83652000	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:83642400-83652000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:83643600-83652000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:83647200-83652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:83647200-83654800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:83647400-83652000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:83648400-83654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:83648600-83654000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:83649600-83654200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:83650400-83652000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:83650400-83652400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:83650400-83652400	Enhancers	NHLF	lung
21	chr7:83650600-83652600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:83650600-83652600	Enhancers	NH-A	brain
23	chr7:83650600-83653000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:83650600-83653000	Enhancers	Fetal Heart	heart
25	chr7:83650800-83652200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr7:83650800-83652400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:83650800-83652800	Enhancers	Adipose Nuclei	Adipose
28	chr7:83651000-83652000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:83651000-83654600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:83651200-83652200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:83651200-83652200	Weak transcription	Osteobl	bone
32	chr7:83651400-83652200	Enhancers	Stomach Smooth Muscle	stomach
33	chr7:83651400-83652600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr7:83651400-83653000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:83651400-83653000	Enhancers	Fetal Brain Female	brain
36	chr7:83651600-83652000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:83651600-83652000	Flanking Active TSS	A549	lung
38	chr7:83651600-83652200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr7:83651600-83652800	Enhancers	Fetal Intestine Small	intestine
40	chr7:83651600-83653000	Enhancers	Fetal Intestine Large	intestine
41	chr7:83651600-83653000	Enhancers	Hela-S3	cervix
42	chr7:83651600-83653000	Enhancers	HepG2	liver
43	chr7:83651800-83652200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr7:83651800-83652200	Enhancers	Stomach Mucosa	stomach
45	chr7:83651800-83652600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:83651800-83652600	Genic enhancers	NHDF-Ad	bronchial
47	chr7:83651800-83652800	Enhancers	NHEK	skin
48	chr7:83652000-83652400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr7:83652000-83652400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:83652000-83652400	Active TSS	A549	lung

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