Variant report

Variant	nsv606454
Chromosome Location	chr7:26141058-26151190
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26148861..26152196-chr7:26192517..26195999,3	K562	blood:
2	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
3	chr7:26146073..26148941-chr7:26224609..26227830,4	K562	blood:
4	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
5	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
6	chr7:26149910..26152831-chr7:26237358..26241131,4	MCF-7	breast:
7	chr7:26140097..26142166-chr7:26224742..26227594,2	K562	blood:
8	chr7:26145169..26147608-chr7:26224836..26227830,4	K562	blood:
9	chr7:26149919..26152511-chr7:26155274..26157717,3	K562	blood:
10	chr22:49929400..49929920-chr7:26140865..26141585,2	NB4	blood:
11	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
12	chr12:53436002..53436502-chr7:26140425..26141348,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000122565	chromatin interactions
ENSG00000122566	chromatin interactions

Extended variants
information (count: 370 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10270120	chr7:26141058-26141059	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552718033	chr7:26141067-26141068	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs114025271	chr7:26141071-26141072	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs190488589	chr7:26141092-26141093	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs554710435	chr7:26141133-26141134	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs180938862	chr7:26141183-26141184	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs10270062	chr7:26141188-26141189	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs142861126	chr7:26141195-26141196	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs537157569	chr7:26141202-26141203	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs10226943	chr7:26141244-26141245	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575590268	chr7:26141255-26141256	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs185458621	chr7:26141267-26141268	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs545706559	chr7:26141268-26141269	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs10240749	chr7:26141297-26141298	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573102433	chr7:26141350-26141351	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs542061956	chr7:26141460-26141461	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs1859304	chr7:26141486-26141487	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs76091646	chr7:26141517-26141518	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs530487759	chr7:26141524-26141525	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs116914941	chr7:26141531-26141532	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs916966	chr7:26141568-26141569	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs560423585	chr7:26141644-26141645	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs532428255	chr7:26141649-26141650	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs34334504	chr7:26141660-26141661	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs554871676	chr7:26141713-26141714	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs566257578	chr7:26141732-26141733	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs916965	chr7:26141786-26141787	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs138776797	chr7:26141787-26141788	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs188258900	chr7:26141963-26141964	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs537018252	chr7:26142050-26142051	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs73683238	chr7:26142051-26142052	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs570645199	chr7:26142119-26142120	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs539920113	chr7:26142152-26142153	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs558048528	chr7:26142236-26142237	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552896610	chr7:26142322-26142323	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs6954340	chr7:26142329-26142330	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs537455027	chr7:26142342-26142343	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs6461914	chr7:26142368-26142369	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555675571	chr7:26142395-26142396	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs376160302	chr7:26142401-26142402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369204029	chr7:26142422-26142423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569929444	chr7:26142441-26142442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55989554	chr7:26142442-26142443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397788016	chr7:26142456-26142457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181433386	chr7:26142499-26142500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6461915	chr7:26142507-26142508	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs373231498	chr7:26142532-26142533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533672635	chr7:26142542-26142543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532928752	chr7:26142563-26142564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4722568	chr7:26142608-26142609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

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 cancer	17952125	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26136400-26142400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr7:26138200-26141400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:26138800-26143600	Enhancers	Placenta	Placenta
4	chr7:26139600-26142400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr7:26140000-26141200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:26140000-26142400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:26140400-26141400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr7:26140400-26141800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:26140400-26142400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr7:26140600-26141400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr7:26140600-26141400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:26140600-26141400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:26140600-26141400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:26140600-26141400	Enhancers	Fetal Muscle Leg	muscle
15	chr7:26140600-26141800	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr7:26140600-26141800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:26140600-26142000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:26140600-26142000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:26140600-26142000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr7:26140600-26142000	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr7:26140600-26142200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:26140600-26142200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:26140600-26142200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:26140600-26142400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:26140600-26142400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr7:26140600-26142400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:26140600-26142400	Active TSS	Adipose Nuclei	Adipose
28	chr7:26140600-26142400	Flanking Active TSS	GM12878-XiMat	blood
29	chr7:26140800-26141200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:26140800-26141200	Enhancers	HepG2	liver
31	chr7:26140800-26141400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr7:26140800-26141400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:26140800-26141600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:26140800-26141600	Flanking Active TSS	Fetal Kidney	kidney
35	chr7:26140800-26141600	Flanking Active TSS	HUVEC	blood vessel
36	chr7:26140800-26142200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:26140800-26142400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:26141000-26141200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr7:26141000-26141200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:26141000-26141200	Enhancers	Fetal Intestine Small	intestine
41	chr7:26141000-26141400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:26141000-26141400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr7:26141000-26141400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:26141000-26141400	Active TSS	Duodenum Mucosa	Duodenum
45	chr7:26141000-26141400	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr7:26141000-26141400	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr7:26141000-26141400	Active TSS	Thymus	Thymus
48	chr7:26141000-26141400	Flanking Bivalent TSS/Enh	Osteobl	bone
49	chr7:26141000-26141600	Enhancers	Liver	Liver
50	chr7:26141000-26141600	Active TSS	Brain Anterior Caudate	brain

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