Variant report

Variant	nsv888618
Chromosome Location	chr7:83359224-83415942
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	chr5:42182671..42183209-chr7:83415074..83415902,2	MCF-7	breast:

Extended variants
information (count: 671 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1921598	chr7:83359224-83359225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568662739	chr7:83359258-83359259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369009263	chr7:83359371-83359372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560372948	chr7:83359383-83359384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557431928	chr7:83359384-83359385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577228654	chr7:83359416-83359417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539837246	chr7:83359445-83359446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553064313	chr7:83359502-83359503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192984815	chr7:83359557-83359558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113714411	chr7:83359566-83359567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184873725	chr7:83359575-83359576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79228929	chr7:83359596-83359597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75999240	chr7:83359597-83359598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78421326	chr7:83359599-83359600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575091390	chr7:83359610-83359611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543954376	chr7:83359620-83359621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564215361	chr7:83359639-83359640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189589724	chr7:83359681-83359682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553813514	chr7:83359692-83359693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146611602	chr7:83359704-83359705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559880694	chr7:83359912-83359913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117369726	chr7:83360006-83360007	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548898746	chr7:83360039-83360040	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568724235	chr7:83360068-83360069	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537653484	chr7:83360134-83360135	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542758954	chr7:83360153-83360154	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550861108	chr7:83360194-83360195	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386715311	chr7:83360198-83360199	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74628190	chr7:83360199-83360200	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553366018	chr7:83360235-83360236	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139077953	chr7:83360245-83360246	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372589682	chr7:83360248-83360249	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112143878	chr7:83360266-83360267	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17158021	chr7:83360282-83360283	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs180705857	chr7:83360290-83360291	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531755257	chr7:83360294-83360295	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555243383	chr7:83360337-83360338	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569736515	chr7:83360343-83360344	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561294036	chr7:83360375-83360376	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575153437	chr7:83360409-83360410	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375312772	chr7:83360429-83360430	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564095927	chr7:83360443-83360444	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373791584	chr7:83360446-83360447	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577704369	chr7:83360448-83360449	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539945579	chr7:83360452-83360453	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560238112	chr7:83360530-83360531	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528902228	chr7:83360585-83360586	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535715703	chr7:83360665-83360666	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376999969	chr7:83360668-83360669	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140315090	chr7:83360682-83360683	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83358400-83359800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:83359800-83360000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:83359800-83360200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:83360000-83361000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
5	chr7:83360200-83360800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:83360200-83361400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:83360200-83361800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:83360400-83360600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:83360400-83360600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:83360400-83360800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:83360400-83360800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr7:83361400-83362400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:83361600-83361800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr7:83361600-83362000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:83361600-83362200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:83361600-83362200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:83361600-83362200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:83361800-83362200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr7:83361800-83362200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:83361800-83363800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:83362200-83367400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:83366200-83367600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:83366400-83368200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:83366600-83367600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:83366600-83367600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:83366600-83368000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:83367200-83367800	Enhancers	Brain Anterior Caudate	brain
28	chr7:83367400-83367800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr7:83367400-83367800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr7:83367400-83368000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:83367400-83368200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:83367400-83368400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:83367600-83368000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr7:83367600-83368800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:83368200-83368400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:83368400-83369200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:83369000-83369200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:83369200-83369400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:83369200-83369400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:83378600-83379200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:83378800-83379200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr7:83378800-83379200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:83378800-83379200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
44	chr7:83378800-83379200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:83380600-83381400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:83380800-83381400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:83403400-83405800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:83405600-83406400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr7:83405600-83406400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:83406200-83406600	Enhancers	HUES48 Cell Line	embryonic stem cell

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