Variant report

Variant	nsv820114
Chromosome Location	chr7:70194653-70203090
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	chr7:70184183..70185798-chr7:70197589..70200298,2	MCF-7	breast:

Extended variants
information (count: 383 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191811049	chr7:70194653-70194654	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs539843263	chr7:70194787-70194788	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs149246147	chr7:70194838-70194839	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs199570693	chr7:70194839-70194840	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557895481	chr7:70194845-70194846	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs71077676	chr7:70194868-70194869	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs57582549	chr7:70194872-70194873	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs184846109	chr7:70194878-70194879	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs56233310	chr7:70194880-70194881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs76701116	chr7:70194883-70194884	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188563614	chr7:70194914-70194915	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs74425064	chr7:70194924-70194925	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573902362	chr7:70194954-70194955	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546098529	chr7:70194961-70194962	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs541524025	chr7:70194987-70194988	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs193065003	chr7:70194996-70194997	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs530545235	chr7:70195025-70195026	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552133215	chr7:70195030-70195031	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545271318	chr7:70195057-70195058	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563966449	chr7:70195058-70195059	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528392661	chr7:70195062-70195063	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546917744	chr7:70195065-70195066	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10235304	chr7:70195070-70195071	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7790623	chr7:70195143-70195144	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550771011	chr7:70195145-70195146	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145873369	chr7:70195200-70195201	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35397169	chr7:70195204-70195205	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200557583	chr7:70195211-70195212	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376493677	chr7:70195212-70195213	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs202023995	chr7:70195213-70195214	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs386714446	chr7:70195214-70195215	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201903196	chr7:70195215-70195216	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200640427	chr7:70195218-70195219	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372680200	chr7:70195220-70195221	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147178215	chr7:70195226-70195227	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567369354	chr7:70195233-70195234	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71077678	chr7:70195236-70195237	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572951192	chr7:70195256-70195257	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534177072	chr7:70195265-70195266	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75171473	chr7:70195298-70195299	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185680197	chr7:70195338-70195339	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115233785	chr7:70195357-70195358	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190686878	chr7:70195380-70195381	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575288233	chr7:70195401-70195402	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542641405	chr7:70195444-70195445	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564023559	chr7:70195461-70195462	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112972059	chr7:70195462-70195463	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542443135	chr7:70195484-70195485	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147885506	chr7:70195498-70195499	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201740341	chr7:70195513-70195514	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70162200-70201600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:70176200-70201600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:70179800-70201600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:70183000-70201600	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:70183200-70200200	Weak transcription	Ovary	ovary
6	chr7:70183200-70201800	Weak transcription	Pancreas	Pancrea
7	chr7:70183400-70195400	Weak transcription	HSMM	muscle
8	chr7:70183600-70197600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:70184400-70195200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:70185800-70197600	Weak transcription	HSMMtube	muscle
11	chr7:70186000-70195400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:70186400-70198200	Weak transcription	Dnd41	blood
13	chr7:70187000-70201200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:70190200-70201400	Weak transcription	Fetal Kidney	kidney
15	chr7:70190600-70199400	Weak transcription	Left Ventricle	heart
16	chr7:70190600-70199600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:70190600-70201600	Weak transcription	Fetal Intestine Large	intestine
18	chr7:70190800-70195400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:70190800-70198000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:70190800-70199400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:70191000-70197400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:70191400-70195000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:70191600-70195000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:70192200-70197400	Weak transcription	Brain Anterior Caudate	brain
25	chr7:70192200-70200200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:70192400-70196800	Weak transcription	Primary T cells from cord blood	blood
27	chr7:70192400-70197200	Weak transcription	Fetal Thymus	thymus
28	chr7:70192400-70198800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr7:70192400-70199400	Weak transcription	Fetal Heart	heart
30	chr7:70192600-70194800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:70193000-70195400	Weak transcription	HMEC	breast
32	chr7:70193000-70195600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:70193000-70200600	Weak transcription	Liver	Liver
34	chr7:70193200-70196000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:70193800-70194800	Flanking Active TSS	GM12878-XiMat	blood
36	chr7:70193800-70195000	Enhancers	Fetal Brain Male	brain
37	chr7:70194000-70195000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:70194000-70199400	Weak transcription	NH-A	brain
39	chr7:70194200-70201800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:70194400-70194800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr7:70194400-70194800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:70194400-70194800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:70194400-70194800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:70194400-70195000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr7:70194400-70195200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr7:70194400-70195400	Weak transcription	Fetal Intestine Small	intestine
47	chr7:70194400-70195600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:70194400-70195600	Weak transcription	Fetal Brain Female	brain
49	chr7:70194400-70195800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:70194400-70199000	Weak transcription	Psoas Muscle	Psoas

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