Variant report

Variant	nsv1016019
Chromosome Location	chr7:85177991-85194414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:84670622..84671190-chr7:85183449..85184130,2	MCF-7	breast:
2	chr7:84659480..84660360-chr7:85183314..85184162,2	MCF-7	breast:
3	chr7:84671065..84671572-chr7:85183760..85184324,2	MCF-7	breast:
4	chr12:7024083..7024583-chr7:85192420..85193063,2	MCF-7	breast:
5	chr7:85183273..85184394-chr7:85379037..85380205,4	MCF-7	breast:
6	chr7:85153959..85156643-chr7:85186340..85188558,2	K562	blood:

Variant related genes	Relation type
ENSG00000111674	chromatin interactions
ENSG00000153993	chromatin interactions

Extended variants
information (count: 635 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371793318	chr7:85178210-85178211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546047099	chr7:85178217-85178218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146776955	chr7:85178243-85178244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534159849	chr7:85178251-85178252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189298126	chr7:85178263-85178264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112417381	chr7:85178339-85178340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117502642	chr7:85178357-85178358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564237053	chr7:85178376-85178377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531695036	chr7:85178395-85178396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550204040	chr7:85178402-85178403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369186011	chr7:85178465-85178466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186590999	chr7:85178510-85178511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139273565	chr7:85178528-85178529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111327541	chr7:85178535-85178536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190951082	chr7:85178540-85178541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200052939	chr7:85178592-85178593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572812080	chr7:85178593-85178594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570533041	chr7:85178603-85178604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60204022	chr7:85178604-85178605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529399520	chr7:85178637-85178638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549718215	chr7:85178671-85178672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181645857	chr7:85178697-85178698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547612581	chr7:85178765-85178766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186853690	chr7:85178781-85178782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145293039	chr7:85178813-85178814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1852699	chr7:85178836-85178837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568886183	chr7:85178843-85178844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530286121	chr7:85178901-85178902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191190863	chr7:85178912-85178913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369456927	chr7:85178943-85178944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73393549	chr7:85178957-85178958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567110731	chr7:85178958-85178959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150935468	chr7:85178986-85178987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183107681	chr7:85179001-85179002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558868206	chr7:85179038-85179039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552018254	chr7:85179068-85179069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570024581	chr7:85179077-85179078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111875830	chr7:85179085-85179086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146144403	chr7:85179127-85179128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3081618	chr7:85179156-85179157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374704833	chr7:85179157-85179158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149083570	chr7:85179161-85179162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555770272	chr7:85179241-85179242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574859874	chr7:85179256-85179257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369373156	chr7:85179272-85179273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78900924	chr7:85179285-85179286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs398005357	chr7:85179287-85179288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189887888	chr7:85179302-85179303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373222967	chr7:85179348-85179349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111409844	chr7:85179356-85179357	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85178200-85180400	Weak transcription	Fetal Lung	lung
2	chr7:85180400-85180600	ZNF genes & repeats	Fetal Lung	lung
3	chr7:85180600-85182400	Weak transcription	Fetal Lung	lung
4	chr7:85182400-85184600	Enhancers	Fetal Lung	lung
5	chr7:85183400-85183800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:85183400-85183800	Enhancers	Fetal Heart	heart
7	chr7:85183400-85184600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:85183600-85183800	Enhancers	A549	lung
9	chr7:85183800-85184200	Flanking Active TSS	A549	lung
10	chr7:85184200-85184400	Enhancers	A549	lung
11	chr7:85184600-85193400	Weak transcription	Fetal Lung	lung
12	chr7:85193200-85193400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:85193400-85194000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr7:85193400-85194400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:85193400-85195800	Enhancers	Fetal Lung	lung
16	chr7:85194200-85195000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:85194200-85196000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:85194400-85194800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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