Variant report

Variant	nsv888343
Chromosome Location	chr7:70641761-70743033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:70321684..70322394-chr7:70659915..70660431,2	MCF-7	breast:
2	chr7:70700080..70701840-chr7:70703874..70706037,2	MCF-7	breast:
3	chr7:70700080..70701840-chr7:70703874..70706037,2	MCF-7	breast:

Extended variants
information (count: 4279 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:4279 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10271414	chr7:70641761-70641762	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544711065	chr7:70641821-70641822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564551434	chr7:70641839-70641840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567906829	chr7:70641859-70641860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533483041	chr7:70641860-70641861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190420033	chr7:70641881-70641882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181556729	chr7:70641892-70641893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569194457	chr7:70641928-70641929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185928400	chr7:70641934-70641935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557840326	chr7:70641961-70641962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112169681	chr7:70641982-70641983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191037122	chr7:70641991-70641992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556034959	chr7:70642018-70642019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574278603	chr7:70642099-70642100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111300226	chr7:70642120-70642121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10256533	chr7:70642121-70642122	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561204791	chr7:70642122-70642123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117612079	chr7:70642131-70642132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61121638	chr7:70642133-70642134	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528412064	chr7:70642146-70642147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540135439	chr7:70642170-70642171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111741102	chr7:70642229-70642230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71549393	chr7:70642260-70642261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550345341	chr7:70642281-70642282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186158076	chr7:70642303-70642304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113883532	chr7:70642313-70642314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563667631	chr7:70642321-70642322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112629516	chr7:70642346-70642347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10272163	chr7:70642427-70642428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs60129386	chr7:70642487-70642488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552361496	chr7:70642497-70642498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566860943	chr7:70642502-70642503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534541797	chr7:70642535-70642536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374142512	chr7:70642590-70642591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73700619	chr7:70642627-70642628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376444042	chr7:70642629-70642630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58698445	chr7:70642738-70642739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534978936	chr7:70642743-70642744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190731522	chr7:70642802-70642803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142164148	chr7:70642810-70642811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547756328	chr7:70642823-70642824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556451296	chr7:70642829-70642830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575300434	chr7:70642830-70642831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4719083	chr7:70642833-70642834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183387822	chr7:70642845-70642846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373601527	chr7:70642892-70642893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558157423	chr7:70643052-70643053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187976629	chr7:70643083-70643084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140683851	chr7:70643131-70643132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192053339	chr7:70643260-70643261	Weak transcription ZNF genes & repeats 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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70612200-70650600	Weak transcription	Fetal Lung	lung
2	chr7:70619800-70641800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:70631600-70641800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:70631800-70647200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:70638400-70643200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:70641000-70642200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:70641000-70642400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:70641000-70642400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:70641000-70642400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:70641000-70642600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:70641200-70642000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:70641400-70642000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:70641400-70642400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:70641600-70642000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr7:70641600-70642800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:70641600-70644200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:70641800-70642200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:70641800-70642200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:70642000-70642200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:70642000-70650200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:70642200-70643400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:70642200-70644200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:70642200-70651000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:70642200-70651600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:70642400-70648400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:70642400-70648800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:70642400-70651200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:70642600-70644000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:70642800-70651400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:70643200-70643800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:70643400-70643600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:70643600-70644000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:70643800-70645200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:70644000-70644200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:70644000-70644200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:70644200-70644800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr7:70644200-70645200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:70644200-70651000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:70644200-70651200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:70645200-70650800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:70645400-70648200	Weak transcription	Right Atrium	heart
42	chr7:70647200-70648000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:70647600-70647800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:70647600-70648000	Enhancers	Brain Anterior Caudate	brain
45	chr7:70647600-70648000	Enhancers	Fetal Muscle Leg	muscle
46	chr7:70647600-70648200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:70647600-70648400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:70647800-70648400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr7:70648000-70649200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:70648000-70651200	Weak transcription	Fetal Muscle Leg	muscle

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