Variant report

Variant	nsv1029811
Chromosome Location	chr7:70106102-70133588
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	chr7:70116058..70119019-chr7:70120958..70123553,2	K562	blood:
2	chr7:70116058..70119019-chr7:70120958..70123553,2	K562	blood:

Extended variants
information (count: 1102 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78094786	chr7:70106168-70106169	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376768773	chr7:70106193-70106194	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73179486	chr7:70106199-70106200	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564062368	chr7:70106201-70106202	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs530848112	chr7:70106229-70106230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs566975341	chr7:70106256-70106257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs28437622	chr7:70106261-70106262	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183706694	chr7:70106262-70106263	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs187914662	chr7:70106268-70106269	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs550486039	chr7:70106306-70106307	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs2866720	chr7:70106310-70106311	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190609254	chr7:70106317-70106318	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539541542	chr7:70106347-70106348	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs183459883	chr7:70106351-70106352	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs560265048	chr7:70106379-70106380	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572859151	chr7:70106395-70106396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs377363499	chr7:70106420-70106421	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs533932231	chr7:70106454-70106455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs555995081	chr7:70106455-70106456	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574239567	chr7:70106485-70106486	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs538189079	chr7:70106486-70106487	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs562939975	chr7:70106493-70106494	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs578154535	chr7:70106518-70106519	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs545874867	chr7:70106525-70106526	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs4717540	chr7:70106569-70106570	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs115989867	chr7:70106597-70106598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs546633958	chr7:70106659-70106660	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs561757260	chr7:70106660-70106661	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs187952484	chr7:70106692-70106693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs192206425	chr7:70106709-70106710	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555235728	chr7:70106754-70106755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs142333039	chr7:70106760-70106761	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs568946419	chr7:70106825-70106826	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs146592393	chr7:70106848-70106849	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs184400351	chr7:70106851-70106852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs147022970	chr7:70106892-70106893	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs566644115	chr7:70106897-70106898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112786414	chr7:70106904-70106905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs555457860	chr7:70106916-70106917	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs567700646	chr7:70106926-70106927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs538149896	chr7:70107013-70107014	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs138163470	chr7:70107032-70107033	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs74433621	chr7:70107033-70107034	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs545640008	chr7:70107041-70107042	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs557853050	chr7:70107066-70107067	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs572958383	chr7:70107092-70107093	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs377570457	chr7:70107132-70107133	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs79450057	chr7:70107234-70107235	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73451604	chr7:70107305-70107306	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs544136046	chr7:70107306-70107307	Weak transcription Strong transcription ZNF genes & repeats	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:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70097400-70109800	Weak transcription	Fetal Brain Female	brain
2	chr7:70101000-70107400	Weak transcription	Liver	Liver
3	chr7:70101000-70109600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:70101000-70158200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:70103200-70112600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:70103400-70113200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:70103400-70133600	Weak transcription	Fetal Intestine Small	intestine
8	chr7:70103600-70125400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:70103800-70106600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:70104000-70113400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:70104400-70110200	Weak transcription	Fetal Kidney	kidney
12	chr7:70104800-70106200	Enhancers	NH-A	brain
13	chr7:70105600-70107000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:70105800-70106800	Weak transcription	Primary B cells from cord blood	blood
15	chr7:70105800-70111400	Weak transcription	Fetal Stomach	stomach
16	chr7:70106000-70112600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:70106400-70106800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:70106600-70107200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:70106800-70107000	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr7:70106800-70107800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:70107000-70109000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:70107000-70143800	Weak transcription	Primary B cells from cord blood	blood
23	chr7:70107200-70107400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr7:70107200-70109200	Weak transcription	Fetal Brain Male	brain
25	chr7:70107200-70109800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:70107200-70120000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:70107400-70109600	Strong transcription	Liver	Liver
28	chr7:70107400-70116800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:70107400-70126200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:70107600-70112800	Weak transcription	GM12878-XiMat	blood
31	chr7:70107800-70112200	Weak transcription	NHEK	skin
32	chr7:70108800-70109200	Enhancers	Brain Anterior Caudate	brain
33	chr7:70108800-70109200	Enhancers	Brain Hippocampus Middle	brain
34	chr7:70109000-70109200	Enhancers	Brain Substantia Nigra	brain
35	chr7:70109000-70109800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:70109200-70109600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:70109200-70111400	Weak transcription	Brain Anterior Caudate	brain
38	chr7:70109200-70111400	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:70109200-70113400	Enhancers	Fetal Brain Male	brain
40	chr7:70109200-70121600	Weak transcription	Brain Substantia Nigra	brain
41	chr7:70109400-70109600	Enhancers	Esophagus	oesophagus
42	chr7:70109400-70109600	Enhancers	Fetal Muscle Trunk	muscle
43	chr7:70109400-70109600	ZNF genes & repeats	Spleen	Spleen
44	chr7:70109400-70111400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:70109600-70109800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:70109600-70110400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr7:70109600-70110800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:70109600-70111000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:70109600-70111600	Weak transcription	Spleen	Spleen
50	chr7:70109600-70112000	Enhancers	Brain Germinal Matrix	brain

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