Variant report

Variant	nsv1033664
Chromosome Location	chr7:25471881-25503391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:25466884..25469386-chr7:25471454..25473182,2	K562	blood:
2	chr7:25496599..25499358-chr7:25502366..25504064,2	K562	blood:
3	chr7:25496599..25499358-chr7:25502366..25504064,2	K562	blood:

Extended variants
information (count: 638 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:638 , 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	rs7799305	chr7:25471881-25471882	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs140264634	chr7:25471904-25471905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59622676	chr7:25471927-25471928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575860548	chr7:25471946-25471947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539180352	chr7:25471954-25471955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559081180	chr7:25472036-25472037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572531095	chr7:25472077-25472078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529821267	chr7:25472101-25472102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535019172	chr7:25472148-25472149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554919516	chr7:25472207-25472208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575046917	chr7:25472211-25472212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12530819	chr7:25472222-25472223	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566169517	chr7:25472269-25472270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28694647	chr7:25472280-25472281	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187588833	chr7:25472288-25472289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551707970	chr7:25472299-25472300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191874072	chr7:25472300-25472301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559028446	chr7:25472315-25472316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375870511	chr7:25472317-25472318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528150412	chr7:25472330-25472331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568819298	chr7:25472367-25472368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370415403	chr7:25472387-25472388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547894241	chr7:25472414-25472415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182351157	chr7:25472424-25472425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530740916	chr7:25472518-25472519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543838276	chr7:25472536-25472537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550846175	chr7:25472542-25472543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7803539	chr7:25472549-25472550	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539653678	chr7:25472632-25472633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186640424	chr7:25472649-25472650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566199460	chr7:25472669-25472670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535086262	chr7:25472674-25472675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368960691	chr7:25472715-25472716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554694280	chr7:25472722-25472723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574774018	chr7:25472799-25472800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191799544	chr7:25472821-25472822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557644127	chr7:25472822-25472823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7804262	chr7:25472861-25472862	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546012641	chr7:25472945-25472946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144903214	chr7:25472973-25472974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112445299	chr7:25473066-25473067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572638355	chr7:25473078-25473079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568146305	chr7:25473081-25473082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541884517	chr7:25473261-25473262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182849737	chr7:25473273-25473274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376649793	chr7:25473308-25473309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530514482	chr7:25473372-25473373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543818326	chr7:25473384-25473385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75000803	chr7:25473411-25473412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78144802	chr7:25473412-25473413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Lung cancer	17086460	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25464600-25472000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:25470400-25473200	Weak transcription	Liver	Liver
3	chr7:25471200-25474400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:25472000-25473000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:25473000-25476200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:25473200-25473600	Enhancers	Liver	Liver
7	chr7:25474400-25475200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:25476200-25477000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:25493200-25493400	Enhancers	Fetal Kidney	kidney
10	chr7:25493400-25494400	Weak transcription	Fetal Kidney	kidney
11	chr7:25493400-25495000	Enhancers	Fetal Muscle Leg	muscle
12	chr7:25493400-25497000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:25493400-25497000	Enhancers	Fetal Lung	lung
14	chr7:25493600-25493800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:25493600-25497000	Enhancers	Adipose Nuclei	Adipose
16	chr7:25493800-25494000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:25493800-25494400	Enhancers	Fetal Muscle Trunk	muscle
18	chr7:25493800-25494800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:25493800-25495000	Enhancers	Psoas Muscle	Psoas
20	chr7:25494000-25494200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:25494000-25494200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:25494000-25494200	Enhancers	Osteobl	bone
23	chr7:25494000-25494400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:25494000-25494400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:25494000-25494400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr7:25494000-25495000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr7:25494000-25495200	Enhancers	Fetal Stomach	stomach
28	chr7:25494000-25495800	Enhancers	Placenta	Placenta
29	chr7:25494200-25494400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:25494200-25494400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr7:25494200-25494400	Enhancers	Stomach Smooth Muscle	stomach
32	chr7:25494200-25494600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:25494200-25494600	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr7:25494200-25494800	Flanking Active TSS	Osteobl	bone
35	chr7:25494200-25495000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr7:25494200-25496800	Enhancers	Lung	lung
37	chr7:25494200-25497000	Enhancers	Colon Smooth Muscle	Colon
38	chr7:25494400-25494600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:25494400-25494600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:25494400-25494600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:25494400-25494600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:25494400-25494600	Bivalent Enhancer	Fetal Intestine Small	intestine
43	chr7:25494400-25494600	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr7:25494400-25494800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr7:25494400-25494800	Bivalent/Poised TSS	A549	lung
46	chr7:25494400-25495000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:25494400-25495000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:25494400-25495000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:25494400-25495000	Enhancers	Fetal Kidney	kidney
50	chr7:25494400-25495400	Weak transcription	Fetal Muscle Trunk	muscle

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