Variant report

Variant	nsv887855
Chromosome Location	chr7:26823963-26872652
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26853916..26855656-chr7:26857931..26859588,2	K562	blood:
2	chr7:26839409..26841289-chr7:26844837..26847761,2	MCF-7	breast:
3	chr7:26831909..26834634-chr7:26834764..26836802,2	MCF-7	breast:
4	chr7:26856308..26858205-chr7:26890312..26892173,2	K562	blood:
5	chr7:26843884..26846440-chr7:26852845..26855435,2	MCF-7	breast:
6	chr7:26855021..26857994-chr7:26859828..26861687,2	K562	blood:
7	chr7:26839409..26841289-chr7:26844837..26847761,2	MCF-7	breast:
8	chr7:26853916..26855656-chr7:26857931..26859588,2	K562	blood:
9	chr7:26843884..26846440-chr7:26852845..26855435,2	MCF-7	breast:
10	chr7:26831909..26834634-chr7:26834764..26836802,2	MCF-7	breast:
11	chr7:26855021..26857994-chr7:26859828..26861687,2	K562	blood:

No data

Extended variants
information (count: 1849 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1849 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs513387	chr7:26823963-26823964	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs578102962	chr7:26823995-26823996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536800780	chr7:26823996-26823997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190238573	chr7:26824039-26824040	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576526196	chr7:26824049-26824050	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545159837	chr7:26824098-26824099	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10262527	chr7:26824279-26824280	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572326174	chr7:26824333-26824334	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182241457	chr7:26824342-26824343	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560811232	chr7:26824393-26824394	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547737385	chr7:26824403-26824404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372168635	chr7:26824422-26824423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563757171	chr7:26824463-26824464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147690164	chr7:26824481-26824482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543263033	chr7:26824503-26824504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140339806	chr7:26824506-26824507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532268425	chr7:26824525-26824526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549127424	chr7:26824540-26824541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376175269	chr7:26824553-26824554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551964755	chr7:26824560-26824561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149930910	chr7:26824619-26824620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528056960	chr7:26824685-26824686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548117129	chr7:26824702-26824703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567910734	chr7:26824704-26824705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559319763	chr7:26824738-26824739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149114862	chr7:26824746-26824747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144853123	chr7:26824781-26824782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546710873	chr7:26824808-26824809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570131470	chr7:26824824-26824825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370725165	chr7:26824829-26824830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528348729	chr7:26824841-26824842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551309677	chr7:26824843-26824844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187333390	chr7:26824855-26824856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376491730	chr7:26824930-26824931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572415918	chr7:26824933-26824934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540981463	chr7:26824934-26824935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12672173	chr7:26824951-26824952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200659837	chr7:26824955-26824956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574434949	chr7:26825036-26825037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73683539	chr7:26825096-26825097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563526644	chr7:26825097-26825098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576936144	chr7:26825100-26825101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190256912	chr7:26825105-26825106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368961636	chr7:26825165-26825166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528095441	chr7:26825249-26825250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544766819	chr7:26825252-26825253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550326399	chr7:26825361-26825362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367601790	chr7:26825445-26825446	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561658785	chr7:26825462-26825463	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530449987	chr7:26825514-26825515	Weak transcription Strong 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
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
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26806600-26829400	Weak transcription	Adipose Nuclei	Adipose
2	chr7:26807800-26825400	Weak transcription	Lung	lung
3	chr7:26808000-26825200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:26808000-26854800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:26809600-26824600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:26810400-26829000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:26810600-26835200	Weak transcription	Spleen	Spleen
8	chr7:26812400-26849000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:26812800-26841600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:26813000-26834000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:26813000-26871200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:26816600-26834000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:26820800-26831000	Weak transcription	Aorta	Aorta
14	chr7:26821000-26843000	Weak transcription	Fetal Lung	lung
15	chr7:26821800-26824800	Weak transcription	NHEK	skin
16	chr7:26822400-26834000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:26822600-26824800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:26822800-26824800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:26823000-26824600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:26823000-26834600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:26823000-26846400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr7:26823200-26824000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:26823200-26824200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:26823200-26824600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:26823400-26833800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr7:26823400-26839600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:26823600-26824000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:26823600-26824800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:26823600-26825400	Weak transcription	Primary B cells from cord blood	blood
30	chr7:26823800-26824200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:26824000-26824400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr7:26824000-26824400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr7:26824200-26824800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:26824200-26832600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:26824400-26824800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:26824400-26824800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:26824600-26827200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:26824600-26832600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:26824800-26827200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:26824800-26827200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:26825400-26825600	Enhancers	Lung	lung
42	chr7:26825400-26827600	Strong transcription	Primary B cells from cord blood	blood
43	chr7:26825400-26872400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:26825600-26826400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:26825600-26837400	Weak transcription	Lung	lung
46	chr7:26826000-26826400	Enhancers	Brain Germinal Matrix	brain
47	chr7:26826400-26829400	Weak transcription	Brain Germinal Matrix	brain
48	chr7:26827000-26827400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:26827200-26827400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr7:26827200-26827400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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