Variant report

Variant	nsv538823
Chromosome Location	chr7:40623026-40789063
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:40643360..40645799-chr7:41744402..41746370,2	MCF-7	breast:
2	chr7:40633290..40635892-chr7:40636595..40638399,2	K562	blood:
3	chr7:40368904..40369830-chr7:40644119..40645087,4	MCF-7	breast:
4	chr7:40757616..40759165-chr7:40763686..40766590,2	MCF-7	breast:
5	chr7:40769315..40772745-chr7:40773748..40777272,3	K562	blood:
6	chr7:40546524..40547688-chr7:40644081..40645084,3	MCF-7	breast:
7	chr7:40687539..40689554-chr7:40692603..40695088,2	K562	blood:
8	chr7:40271902..40272542-chr7:40644343..40645096,2	MCF-7	breast:
9	chr7:40633290..40635892-chr7:40636595..40638399,2	K562	blood:
10	chr7:40717841..40720122-chr7:40725569..40728338,2	MCF-7	breast:
11	chr7:40739877..40740575-chr7:40765897..40766832,3	MCF-7	breast:
12	chr7:40679489..40681796-chr7:40691535..40693864,2	MCF-7	breast:
13	chr7:40687539..40689554-chr7:40692603..40695088,2	K562	blood:
14	chr7:40642351..40644678-chr7:40648478..40652867,3	K562	blood:
15	chr7:40782318..40784724-chr7:40791485..40793846,2	K562	blood:
16	chr7:40754402..40757176-chr7:40759198..40761990,2	MCF-7	breast:
17	chr7:40769315..40772745-chr7:40773748..40777272,3	K562	blood:
18	chr7:40739877..40740575-chr7:40765897..40766832,3	MCF-7	breast:
19	chr7:40726789..40728453-chr7:40733960..40735674,2	K562	blood:
20	chr7:40756767..40759602-chr7:40763278..40766284,3	MCF-7	breast:
21	chr7:40726572..40729922-chr7:40745740..40747693,3	K562	blood:
22	chr7:40726572..40729922-chr7:40745740..40747693,3	K562	blood:
23	chr7:40756767..40759602-chr7:40763278..40766284,3	MCF-7	breast:
24	chr7:40754402..40757176-chr7:40759198..40761990,2	MCF-7	breast:
25	chr7:40717841..40720122-chr7:40725569..40728338,2	MCF-7	breast:
26	chr7:40271921..40272777-chr7:40766227..40766815,2	MCF-7	breast:
27	chr7:40757616..40759165-chr7:40763686..40766590,2	MCF-7	breast:
28	chr7:40642351..40644678-chr7:40648478..40652867,3	K562	blood:
29	chr7:40679489..40681796-chr7:40691535..40693864,2	MCF-7	breast:
30	chr7:40529348..40529994-chr7:40644364..40645119,2	MCF-7	breast:
31	chr7:40726789..40728453-chr7:40733960..40735674,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236310	chromatin interactions

Extended variants
information (count: 5552 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:5552 , 50 per page) page: 1 2 3 4 5 6 7 ... 112

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147160098	chr7:40623074-40623075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570936896	chr7:40623079-40623080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533412202	chr7:40623087-40623088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549899099	chr7:40623188-40623189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140330225	chr7:40623195-40623196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535406278	chr7:40623221-40623222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548829330	chr7:40623273-40623274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534069924	chr7:40623313-40623314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77568207	chr7:40623314-40623315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4317480	chr7:40623322-40623323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs956346	chr7:40623352-40623353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534485957	chr7:40623381-40623382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557475800	chr7:40623452-40623453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555879449	chr7:40623457-40623458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144163260	chr7:40623492-40623493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556688090	chr7:40623499-40623500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151227725	chr7:40623526-40623527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4639418	chr7:40623549-40623550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564891054	chr7:40623580-40623581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187644023	chr7:40623637-40623638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562355837	chr7:40623644-40623645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572706524	chr7:40623648-40623649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541642515	chr7:40623657-40623658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564643890	chr7:40623674-40623675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192171245	chr7:40623681-40623682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140353733	chr7:40623682-40623683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563547412	chr7:40623687-40623688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116374685	chr7:40623714-40623715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535653141	chr7:40623754-40623755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557142895	chr7:40623756-40623757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184208265	chr7:40623792-40623793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565632784	chr7:40623809-40623810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370150260	chr7:40623895-40623896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534545211	chr7:40623925-40623926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116248445	chr7:40623930-40623931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189846065	chr7:40623933-40623934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571372345	chr7:40624112-40624113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536770754	chr7:40624136-40624137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531987721	chr7:40624198-40624199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573591988	chr7:40624260-40624261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536234297	chr7:40624283-40624284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560575103	chr7:40624299-40624300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149933315	chr7:40624316-40624317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192792187	chr7:40624332-40624333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113130094	chr7:40624341-40624342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568632328	chr7:40624353-40624354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578096710	chr7:40624381-40624382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543586643	chr7:40624435-40624436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563781442	chr7:40624627-40624628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145028474	chr7:40624635-40624636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	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
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Dyslexia	22102821	CNVD

Chromatin state (count:929 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40611800-40623400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:40611800-40626000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:40612800-40624600	Weak transcription	NHLF	lung
4	chr7:40619400-40623400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:40619400-40623400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:40619400-40623400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:40619400-40623600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:40619400-40626000	Weak transcription	HSMM	muscle
9	chr7:40619600-40623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:40619600-40623200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:40619600-40623200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:40619600-40623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:40619600-40623400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:40619600-40624000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:40619600-40624200	Weak transcription	Osteobl	bone
16	chr7:40619600-40624400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:40619600-40624400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:40619600-40624400	Weak transcription	NH-A	brain
19	chr7:40619600-40624600	Weak transcription	Dnd41	blood
20	chr7:40619600-40630200	Weak transcription	Aorta	Aorta
21	chr7:40619800-40623200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:40619800-40623200	Weak transcription	HMEC	breast
23	chr7:40619800-40624000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:40620400-40624400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:40621000-40626000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:40622200-40625800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr7:40622400-40623200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:40622400-40624200	Weak transcription	HUVEC	blood vessel
29	chr7:40622600-40625600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr7:40622600-40625800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:40623000-40624000	Enhancers	HepG2	liver
32	chr7:40623200-40623600	Enhancers	Brain Cingulate Gyrus	brain
33	chr7:40623200-40623800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr7:40623200-40624800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:40623200-40624800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:40623200-40625000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:40623200-40625000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:40623200-40626400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:40623200-40626400	Enhancers	HMEC	breast
40	chr7:40623200-40626400	Enhancers	NHDF-Ad	bronchial
41	chr7:40623400-40623600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:40623400-40624600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:40623400-40625000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:40623400-40625000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:40623400-40625000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:40623400-40625200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:40623400-40626800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:40623600-40623800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:40623600-40624000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:40623600-40624400	Enhancers	HUES64 Cell Line	embryonic stem cell

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