Variant report

Variant	nsv607727
Chromosome Location	chr7:87082042-87101407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:87060366..87063144-chr7:87081442..87083012,2	MCF-7	breast:
2	chr7:87075903..87078103-chr7:87080060..87082449,2	K562	blood:
3	chr7:86568193..86568776-chr7:87081301..87082150,2	MCF-7	breast:
4	chr7:87043780..87045715-chr7:87084104..87086345,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005471	chromatin interactions

Extended variants
information (count: 727 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:727 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1473154	chr7:87082042-87082043	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568488822	chr7:87082076-87082077	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535908439	chr7:87082176-87082177	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553982608	chr7:87082191-87082192	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186313352	chr7:87082197-87082198	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368172849	chr7:87082228-87082229	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370647193	chr7:87082236-87082237	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs8187790	chr7:87082249-87082250	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558416191	chr7:87082271-87082272	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs58238559	chr7:87082273-87082274	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs200429296	chr7:87082284-87082285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542995265	chr7:87082285-87082286	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200015386	chr7:87082287-87082288	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1202283	chr7:87082292-87082293	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs377160065	chr7:87082321-87082322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2230027	chr7:87082337-87082338	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147333055	chr7:87082340-87082341	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs72552780	chr7:87082366-87082367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs72552781	chr7:87082384-87082385	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559187706	chr7:87082385-87082386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs387906526	chr7:87082396-87082397	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200544332	chr7:87082398-87082399	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113445400	chr7:87082430-87082431	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376097199	chr7:87082468-87082469	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200134440	chr7:87082492-87082493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs199500302	chr7:87082497-87082498	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375660885	chr7:87082511-87082512	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552077287	chr7:87082532-87082533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530797894	chr7:87082641-87082642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190779481	chr7:87082721-87082722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183779197	chr7:87082730-87082731	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535483317	chr7:87082731-87082732	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141005127	chr7:87082775-87082776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148055991	chr7:87082794-87082795	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561758529	chr7:87082867-87082868	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2072384	chr7:87082868-87082869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs537728434	chr7:87082895-87082896	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs188309648	chr7:87082915-87082916	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs75665183	chr7:87082975-87082976	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372301837	chr7:87083050-87083051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377247342	chr7:87083089-87083090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569940502	chr7:87083101-87083102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537315101	chr7:87083119-87083120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56223611	chr7:87083157-87083158	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs573534792	chr7:87083203-87083204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs45571644	chr7:87083261-87083262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs398005397	chr7:87083267-87083268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201457159	chr7:87083334-87083335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs45479991	chr7:87083339-87083340	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs553024467	chr7:87083355-87083356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86980000-87085600	Weak transcription	Right Ventricle	heart
2	chr7:87024800-87093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:87040800-87085600	Weak transcription	Psoas Muscle	Psoas
4	chr7:87051200-87085600	Weak transcription	Fetal Heart	heart
5	chr7:87066800-87085600	Weak transcription	Left Ventricle	heart
6	chr7:87073200-87087000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:87075600-87094800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr7:87078000-87087400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:87078000-87087600	Weak transcription	Aorta	Aorta
10	chr7:87079400-87082200	Genic enhancers	Liver	Liver
11	chr7:87079400-87085400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:87079600-87087400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:87080600-87082400	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:87080800-87082200	Strong transcription	Primary B cells from cord blood	blood
15	chr7:87081200-87085000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:87081600-87084600	Weak transcription	HepG2	liver
17	chr7:87082200-87083400	Strong transcription	Liver	Liver
18	chr7:87082200-87084400	Weak transcription	Primary B cells from cord blood	blood
19	chr7:87082400-87085000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:87083400-87084200	Genic enhancers	Liver	Liver
21	chr7:87084200-87086000	Weak transcription	Liver	Liver
22	chr7:87084400-87094000	Strong transcription	Primary B cells from cord blood	blood
23	chr7:87084600-87088400	Genic enhancers	HepG2	liver
24	chr7:87084800-87086000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:87085000-87086400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr7:87085000-87086400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:87085400-87085800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:87085400-87086000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:87085600-87085800	Enhancers	Right Ventricle	heart
30	chr7:87085600-87086200	Enhancers	Fetal Heart	heart
31	chr7:87085600-87086200	Enhancers	Left Ventricle	heart
32	chr7:87085600-87086800	Enhancers	Psoas Muscle	Psoas
33	chr7:87085800-87087200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:87086000-87086400	Genic enhancers	Liver	Liver
35	chr7:87086000-87087400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:87086200-87094200	Weak transcription	Fetal Heart	heart
37	chr7:87086400-87092000	Strong transcription	Liver	Liver
38	chr7:87086400-87092600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:87086400-87092800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:87087000-87087600	Enhancers	Brain Cingulate Gyrus	brain
41	chr7:87087000-87088800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:87087200-87087800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:87087400-87087600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:87087400-87087800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:87087400-87088000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:87087400-87088000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:87087400-87088000	Enhancers	Brain Hippocampus Middle	brain
48	chr7:87088000-87093000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:87088400-87089400	Strong transcription	HepG2	liver
50	chr7:87088800-87093200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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