Variant report

Variant	nsv981497
Chromosome Location	chr7:64366868-64385550
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:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:64371294..64373665-chr7:64381252..64383670,2	K562	blood:
2	chr7:64364987..64367738-chr7:64372489..64374310,3	K562	blood:
3	chr7:64379064..64380990-chr7:64384632..64386580,2	K562	blood:
4	chr7:64375519..64377057-chr7:64380294..64381949,2	K562	blood:
5	chr7:64379064..64380990-chr7:64384632..64386580,2	K562	blood:
6	chr7:64364987..64367738-chr7:64372489..64374310,3	K562	blood:
7	chr7:64384870..64387143-chr7:64389690..64392523,2	K562	blood:
8	chr7:64365308..64368250-chr7:64464896..64466671,2	K562	blood:
9	chr7:64365012..64367238-chr7:64400877..64402549,2	MCF-7	breast:
10	chr7:64375519..64377057-chr7:64380294..64381949,2	K562	blood:
11	chr7:64371294..64373665-chr7:64381252..64383670,2	K562	blood:
12	chr7:64384777..64386420-chr7:64388567..64390560,2	MCF-7	breast:
13	chr7:64363939..64365901-chr7:64381813..64383330,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF273-1	chr7:64377408-64377496	NR_003099
2	lnc-ZNF273-1	chr7:64377959-64378085	NR_003099
3	lnc-ZNF273-1	chr7:64378575-64378670	NR_003099

No data

Extended variants
information (count: 725 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35933307	chr7:64366878-64366879	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs397950768	chr7:64366879-64366880	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs545247749	chr7:64366902-64366903	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs374743448	chr7:64366909-64366910	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs565508614	chr7:64366956-64366957	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs77026295	chr7:64366993-64366994	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs143273364	chr7:64367000-64367001	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs35516487	chr7:64367064-64367065	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs561219870	chr7:64367097-64367098	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs4718167	chr7:64367106-64367107	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs547083156	chr7:64367111-64367112	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs560592255	chr7:64367134-64367135	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs532669430	chr7:64367144-64367145	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs564585495	chr7:64367147-64367148	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs186988715	chr7:64367157-64367158	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs571463872	chr7:64367174-64367175	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs536945709	chr7:64367206-64367207	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs34632422	chr7:64367215-64367216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4717225	chr7:64367235-64367236	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs560819572	chr7:64367255-64367256	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566885859	chr7:64367256-64367257	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs146824482	chr7:64367275-64367276	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540544989	chr7:64367313-64367314	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs191432016	chr7:64367360-64367361	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140990164	chr7:64367362-64367363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546446563	chr7:64367445-64367446	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563328580	chr7:64367544-64367545	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs538765273	chr7:64367598-64367599	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs564900044	chr7:64367671-64367672	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111703566	chr7:64367709-64367710	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11772109	chr7:64367776-64367777	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs575798131	chr7:64367788-64367789	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184291221	chr7:64367873-64367874	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544539302	chr7:64367904-64367905	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs555318312	chr7:64368018-64368019	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs201439319	chr7:64368037-64368038	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs371685115	chr7:64368074-64368075	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs574859052	chr7:64368104-64368105	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs9638403	chr7:64368112-64368113	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs560508110	chr7:64368188-64368189	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs566087116	chr7:64368219-64368220	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs4718168	chr7:64368225-64368226	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs144820566	chr7:64368317-64368318	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs77397885	chr7:64368318-64368319	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs530745940	chr7:64368319-64368320	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs548923269	chr7:64368344-64368345	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs568765145	chr7:64368387-64368388	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs10265110	chr7:64368420-64368421	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557576433	chr7:64368434-64368435	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs570954087	chr7:64368446-64368447	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64364200-64368200	Weak transcription	Left Ventricle	heart
2	chr7:64364200-64368800	Weak transcription	Pancreas	Pancrea
3	chr7:64364200-64380400	Weak transcription	Esophagus	oesophagus
4	chr7:64364400-64367000	Weak transcription	HSMMtube	muscle
5	chr7:64364400-64367600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr7:64364400-64367800	Weak transcription	Psoas Muscle	Psoas
7	chr7:64364400-64368000	Weak transcription	Right Atrium	heart
8	chr7:64364400-64369600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr7:64364400-64376800	Weak transcription	Ovary	ovary
10	chr7:64364400-64379000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:64364400-64380400	Weak transcription	Aorta	Aorta
12	chr7:64364400-64380400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:64364400-64382600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:64364600-64367000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:64364600-64367800	Weak transcription	NH-A	brain
16	chr7:64364600-64368000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:64364600-64368200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:64364600-64368200	Weak transcription	Stomach Mucosa	stomach
19	chr7:64364600-64368400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:64364600-64368400	Weak transcription	NHEK	skin
21	chr7:64364600-64372400	Weak transcription	Fetal Stomach	stomach
22	chr7:64364600-64374000	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:64364600-64383200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:64364600-64386400	Weak transcription	HUVEC	blood vessel
25	chr7:64364600-64387200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:64364800-64367000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:64364800-64367000	Weak transcription	HSMM	muscle
28	chr7:64364800-64368200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:64364800-64368400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:64364800-64372400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:64364800-64373800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:64364800-64379200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:64364800-64379200	Weak transcription	Adipose Nuclei	Adipose
34	chr7:64364800-64379800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:64364800-64380200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:64364800-64380600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:64365000-64367200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:64365000-64367800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:64365000-64368000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:64365000-64368000	Weak transcription	Fetal Heart	heart
41	chr7:64365000-64368600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:64365000-64369200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:64365000-64374000	Weak transcription	Thymus	Thymus
44	chr7:64365000-64378600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:64365200-64367800	Weak transcription	Osteobl	bone
46	chr7:64365400-64367000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:64365400-64367400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:64365400-64367800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:64365400-64367800	Weak transcription	Fetal Lung	lung
50	chr7:64365400-64368400	Weak transcription	Primary hematopoietic stem cells	blood

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