Variant report

Variant	nsv1027576
Chromosome Location	chr7:140539039-140576935
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:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140545764..140548574-chr7:140553287..140554833,2	K562	blood:
2	chr7:140555537..140558723-chr7:140560485..140562343,3	K562	blood:
3	chr7:140549692..140551797-chr7:140557152..140559330,3	K562	blood:
4	chr7:140533444..140535631-chr7:140537369..140539813,2	K562	blood:
5	chr7:140557460..140561593-chr7:140571056..140573621,3	K562	blood:
6	chr7:140540956..140543931-chr7:140548791..140552881,3	MCF-7	breast:
7	chr7:140541066..140543688-chr7:140623190..140625877,3	K562	blood:
8	chr7:140534131..140536151-chr7:140537369..140539695,2	K562	blood:
9	chr7:140555946..140559478-chr7:140574386..140576522,3	MCF-7	breast:
10	chr7:140560224..140564238-chr7:140566941..140570656,4	K562	blood:
11	chr7:140567539..140569746-chr7:140571900..140574839,2	MCF-7	breast:
12	chr7:140561409..140564479-chr7:140621368..140624778,3	K562	blood:
13	chr7:140558657..140561729-chr7:140623344..140626449,3	K562	blood:
14	chr7:140555537..140558723-chr7:140560485..140562343,3	K562	blood:
15	chr7:140572911..140575551-chr7:140622620..140624458,2	MCF-7	breast:
16	chr7:140538628..140541120-chr7:140619977..140622636,2	K562	blood:
17	chr7:140555134..140561473-chr7:140561764..140565765,7	K562	blood:
18	chr7:140545764..140548574-chr7:140553287..140554833,2	K562	blood:
19	chr7:140566130..140568402-chr7:140568584..140570185,2	MCF-7	breast:
20	chr7:140549094..140553988-chr7:140556744..140560240,4	K562	blood:
21	chr7:140559226..140564238-chr7:140566941..140572115,8	K562	blood:
22	chr7:140540956..140543931-chr7:140548791..140552881,3	MCF-7	breast:
23	chr7:140549692..140551797-chr7:140557152..140559330,3	K562	blood:
24	chr7:140560224..140564238-chr7:140566941..140570656,4	K562	blood:
25	chr7:140559633..140561782-chr7:140587885..140590240,2	MCF-7	breast:
26	chr7:140559226..140564238-chr7:140566941..140572115,8	K562	blood:
27	chr7:140559359..140561224-chr7:140622825..140624908,2	MCF-7	breast:
28	chr7:140557460..140561593-chr7:140571056..140573621,3	K562	blood:
29	chr7:140555134..140561473-chr7:140561764..140565765,7	K562	blood:
30	chr7:140546330..140547898-chr7:140557468..140559199,2	MCF-7	breast:
31	chr7:140555946..140559478-chr7:140574386..140576522,3	MCF-7	breast:
32	chr7:140554945..140557362-chr7:140625940..140628286,2	K562	blood:
33	chr7:140566130..140568402-chr7:140568584..140570185,2	MCF-7	breast:
34	chr7:140576301..140578300-chr7:140622207..140624826,3	MCF-7	breast:
35	chr7:140567539..140569746-chr7:140571900..140574839,2	MCF-7	breast:
36	chr7:140549094..140553988-chr7:140556744..140560240,4	K562	blood:
37	chr7:140546330..140547898-chr7:140557468..140559199,2	MCF-7	breast:
38	chr7:140574947..140577128-chr7:140708628..140711066,2	K562	blood:
39	chr7:140571783..140574857-chr7:140622852..140625165,3	K562	blood:
40	chr7:140541781..140544363-chr7:140710556..140714450,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157764	chromatin interactions
ENSG00000090263	chromatin interactions

Extended variants
information (count: 1358 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1358 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76133030	chr7:140539092-140539093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576253234	chr7:140539113-140539114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543286570	chr7:140539117-140539118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570160646	chr7:140539137-140539138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561899285	chr7:140539141-140539142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138127424	chr7:140539148-140539149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74624266	chr7:140539192-140539193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144274943	chr7:140539211-140539212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115636600	chr7:140539227-140539228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551769570	chr7:140539232-140539233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570267167	chr7:140539245-140539246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537731310	chr7:140539322-140539323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549337232	chr7:140539373-140539374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552988705	chr7:140539399-140539400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188657615	chr7:140539414-140539415	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73494533	chr7:140539436-140539437	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553458472	chr7:140539444-140539445	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571760051	chr7:140539499-140539500	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574777962	chr7:140539513-140539514	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148756596	chr7:140539568-140539569	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527501264	chr7:140539571-140539572	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576287346	chr7:140539617-140539618	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543701203	chr7:140539637-140539638	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371559295	chr7:140539644-140539645	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555316871	chr7:140539658-140539659	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6947950	chr7:140539665-140539666	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs199595960	chr7:140539679-140539680	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541182324	chr7:140539680-140539681	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192521703	chr7:140539697-140539698	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115076389	chr7:140539745-140539746	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6969149	chr7:140539768-140539769	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183647929	chr7:140539839-140539840	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186959563	chr7:140539851-140539852	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545873295	chr7:140539905-140539906	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549642322	chr7:140539906-140539907	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191780392	chr7:140539935-140539936	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs386718491	chr7:140539958-140539959	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10280112	chr7:140539960-140539961	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs57902018	chr7:140539972-140539973	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539125786	chr7:140539975-140539976	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564376457	chr7:140540014-140540015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557515452	chr7:140540037-140540038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59232128	chr7:140540041-140540042	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs115143881	chr7:140540096-140540097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375461881	chr7:140540106-140540107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534992236	chr7:140540126-140540127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147499429	chr7:140540134-140540135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562202150	chr7:140540135-140540136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371738414	chr7:140540164-140540165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369885737	chr7:140540177-140540178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:650 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:140479600-140559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:140493800-140551800	Weak transcription	Left Ventricle	heart
4	chr7:140494400-140545400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:140494400-140555600	Weak transcription	Hela-S3	cervix
6	chr7:140498000-140548600	Weak transcription	A549	lung
7	chr7:140500400-140545600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:140500400-140548800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:140507400-140548000	Weak transcription	Fetal Brain Female	brain
10	chr7:140508200-140557000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:140511000-140563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:140511200-140549200	Weak transcription	Fetal Kidney	kidney
13	chr7:140511400-140546600	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:140512000-140546800	Weak transcription	Thymus	Thymus
15	chr7:140516800-140553000	Weak transcription	Spleen	Spleen
16	chr7:140517400-140548400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:140517600-140545400	Weak transcription	Brain Germinal Matrix	brain
18	chr7:140518000-140545400	Weak transcription	Fetal Lung	lung
19	chr7:140518000-140546200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:140518800-140550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:140519800-140545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:140520800-140557000	Weak transcription	Brain Angular Gyrus	brain
23	chr7:140522800-140549400	Weak transcription	Lung	lung
24	chr7:140523200-140554000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:140524400-140556800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:140524400-140567800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:140524800-140549600	Weak transcription	NH-A	brain
28	chr7:140525200-140567400	Weak transcription	Right Ventricle	heart
29	chr7:140525400-140549800	Weak transcription	HUVEC	blood vessel
30	chr7:140525600-140557400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:140526000-140547200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:140526000-140556600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:140527600-140550400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:140527600-140573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:140528600-140563400	Weak transcription	Esophagus	oesophagus
36	chr7:140529600-140558000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:140530400-140564800	Weak transcription	Aorta	Aorta
38	chr7:140530600-140540400	Weak transcription	Pancreas	Pancrea
39	chr7:140530600-140557000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:140530600-140573200	Weak transcription	Gastric	stomach
41	chr7:140531000-140545800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:140531000-140558400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:140531200-140540400	Weak transcription	Ovary	ovary
44	chr7:140531200-140546400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:140531400-140543800	Weak transcription	Fetal Intestine Large	intestine
46	chr7:140531600-140545200	Weak transcription	GM12878-XiMat	blood
47	chr7:140532200-140546400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:140532400-140551800	Weak transcription	HepG2	liver
49	chr7:140532600-140544400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr7:140532600-140546000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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