Variant report

Variant	nsv1024997
Chromosome Location	chr7:70314470-70363152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:70321665..70322892-chr7:71197945..71198934,7	MCF-7	breast:
2	chr7:70309809..70312680-chr7:70313436..70316301,3	K562	blood:
3	chr7:70320133..70320969-chr7:71200768..71201606,2	MCF-7	breast:
4	chr7:70321514..70322440-chr7:71198003..71198947,6	MCF-7	breast:
5	chr7:70319996..70320657-chr7:71198026..71198561,2	MCF-7	breast:
6	chr7:70321617..70322562-chr7:70976561..70977221,2	MCF-7	breast:
7	chr7:70321651..70322570-chr7:71197952..71198877,7	K562	blood:
8	chr7:70316123..70316992-chr7:71197861..71198674,2	K562	blood:
9	chr7:70321682..70322568-chr7:71200885..71201597,2	K562	blood:
10	chr7:70321614..70322798-chr7:71200589..71201582,5	MCF-7	breast:
11	chr7:70294046..70294810-chr7:70321629..70322145,2	MCF-7	breast:
12	chr7:70321684..70322394-chr7:70659915..70660431,2	MCF-7	breast:

No data

Extended variants
information (count: 1725 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1725 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539446207	chr7:70314476-70314477	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs551313082	chr7:70314481-70314482	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557773651	chr7:70314525-70314526	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572912431	chr7:70314587-70314588	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540878053	chr7:70314627-70314628	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs140214476	chr7:70314633-70314634	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs565963372	chr7:70314661-70314662	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs544511022	chr7:70314689-70314690	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs368616800	chr7:70314692-70314693	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs144526475	chr7:70314696-70314697	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs575456196	chr7:70314728-70314729	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs35519325	chr7:70314751-70314752	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs189349339	chr7:70314766-70314767	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372887415	chr7:70314771-70314772	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs180864047	chr7:70314801-70314802	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs528077088	chr7:70314812-70314813	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs145393488	chr7:70314839-70314840	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs185913852	chr7:70314854-70314855	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs117440558	chr7:70314872-70314873	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs189745106	chr7:70314884-70314885	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs181315131	chr7:70314906-70314907	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7786779	chr7:70314908-70314909	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374166321	chr7:70314937-70314938	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs539509556	chr7:70314991-70314992	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs551466093	chr7:70314992-70314993	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554887576	chr7:70315016-70315017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534474663	chr7:70315017-70315018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566503773	chr7:70315018-70315019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377468243	chr7:70315034-70315035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6968021	chr7:70315067-70315068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs559521026	chr7:70315165-70315166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185987811	chr7:70315169-70315170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200852974	chr7:70315170-70315171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142137320	chr7:70315171-70315172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190447390	chr7:70315192-70315193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12698951	chr7:70315204-70315205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182771650	chr7:70315215-70315216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6460573	chr7:70315221-70315222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545866653	chr7:70315222-70315223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34502147	chr7:70315324-70315325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs35221259	chr7:70315336-70315337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397933615	chr7:70315343-70315344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545076772	chr7:70315344-70315345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572782249	chr7:70315347-70315348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565240776	chr7:70315384-70315385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56376908	chr7:70315398-70315399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs186364339	chr7:70315400-70315401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56403077	chr7:70315403-70315404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs6460574	chr7:70315413-70315414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551430271	chr7:70315437-70315438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	22522925	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70314200-70315000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr7:70314200-70315000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:70315000-70321600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:70316000-70316800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr7:70316800-70321600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:70319400-70320000	Enhancers	Fetal Stomach	stomach
7	chr7:70319800-70320400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:70320200-70320400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:70320400-70320600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:70320400-70321200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:70320600-70321600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:70320600-70321800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:70321200-70323600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:70321400-70322000	Enhancers	Fetal Muscle Trunk	muscle
15	chr7:70321400-70322200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:70321400-70322800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:70321400-70325000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:70321600-70322000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:70321600-70322000	Enhancers	Placenta	Placenta
20	chr7:70321600-70322000	Bivalent Enhancer	Fetal Stomach	stomach
21	chr7:70321600-70322400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:70321600-70323400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:70321600-70323400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:70321600-70323600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:70321800-70322800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:70322000-70322200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:70322000-70322800	Enhancers	Fetal Stomach	stomach
28	chr7:70322200-70322800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr7:70322200-70322800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr7:70322200-70323400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:70322400-70322800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr7:70322400-70322800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:70322800-70323000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:70322800-70323400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:70322800-70323400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:70322800-70323600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:70322800-70323600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:70323000-70323400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:70323400-70323800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:70323400-70323800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:70323400-70324200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr7:70323600-70324400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr7:70323600-70325000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr7:70323600-70325000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:70323800-70324200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr7:70323800-70324600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:70323800-70324800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr7:70333600-70333800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:70333800-70335600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:70334200-70334800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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