Variant report

Variant	nsv889054
Chromosome Location	chr7:111666943-111739842
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:68)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:111724807..111725873-chr7:111784185..111785009,6	MCF-7	breast:
2	chr7:111694475..111696328-chr7:111697241..111699580,2	K562	blood:
3	chr7:111667061..111669402-chr7:111698388..111701090,2	K562	blood:
4	chr7:111730398..111731930-chr7:111732566..111734324,2	MCF-7	breast:
5	chr7:111666586..111669404-chr7:111670098..111671615,2	K562	blood:
6	chr7:111725644..111728326-chr7:111730288..111732992,2	K562	blood:
7	chr7:111653117..111655730-chr7:111674679..111677123,2	K562	blood:
8	chr7:111724902..111725864-chr7:111800272..111801112,3	MCF-7	breast:
9	chr7:111712128..111713955-chr7:111714116..111716651,2	MCF-7	breast:
10	chr7:111735196..111738004-chr7:111739668..111741650,2	K562	blood:
11	chr7:111721035..111722609-chr7:112204033..112205588,2	MCF-7	breast:
12	chr7:111719879..111722087-chr7:111722721..111725922,3	MCF-7	breast:
13	chr20:52529863..52532284-chr7:111681323..111683323,2	MCF-7	breast:
14	chr7:111657467..111660599-chr7:111663952..111668324,4	K562	blood:
15	chr7:111706366..111708870-chr7:111719748..111721379,2	K562	blood:
16	chr7:111683205..111686070-chr7:111696191..111697758,2	K562	blood:
17	chr7:111712128..111713955-chr7:111714116..111716651,2	MCF-7	breast:
18	chr7:111725319..111725839-chr7:111784610..111785137,2	MCF-7	breast:
19	chr7:111727544..111730183-chr7:111730698..111732624,2	MCF-7	breast:
20	chr7:111726283..111728436-chr7:111728606..111730234,2	MCF-7	breast:
21	chr7:111673451..111677355-chr7:111678241..111682927,4	MCF-7	breast:
22	chr7:111733344..111737264-chr7:111740377..111743669,3	MCF-7	breast:
23	chr7:111701489..111703722-chr7:111708917..111711831,2	MCF-7	breast:
24	chr7:111719561..111720111-chr7:112051016..112051524,2	MCF-7	breast:
25	chr7:111726283..111728436-chr7:111728606..111730234,2	MCF-7	breast:
26	chr7:111670725..111672548-chr7:111674704..111678089,3	MCF-7	breast:
27	chr7:111719879..111722087-chr7:111722721..111725922,3	MCF-7	breast:
28	chr7:111711136..111713687-chr7:111723265..111726073,2	MCF-7	breast:
29	chr7:111669068..111671369-chr7:111671874..111673697,2	K562	blood:
30	chr7:111669068..111671369-chr7:111671874..111673697,2	K562	blood:
31	chr7:111670725..111672548-chr7:111674704..111678089,3	MCF-7	breast:
32	chr7:111718019..111719728-chr7:111726986..111728960,2	MCF-7	breast:
33	chr7:111725644..111728326-chr7:111730288..111732992,2	K562	blood:
34	chr7:111666586..111669404-chr7:111670098..111671615,2	K562	blood:
35	chr7:111706366..111708870-chr7:111719748..111721379,2	K562	blood:
36	chr7:111718019..111719728-chr7:111726986..111728960,2	MCF-7	breast:
37	chr7:111735196..111738004-chr7:111739668..111741650,2	K562	blood:
38	chr7:111683205..111686070-chr7:111696191..111697758,2	K562	blood:
39	chr7:111739006..111741614-chr7:111745042..111747741,2	K562	blood:
40	chr7:111722754..111725358-chr7:111846243..111848256,2	MCF-7	breast:
41	chr7:111719751..111721639-chr7:111721753..111724570,2	K562	blood:
42	chr7:111727653..111730337-chr7:111737903..111739641,2	K562	blood:
43	chr7:111381576..111382122-chr7:111719685..111720408,2	MCF-7	breast:
44	chr7:111696985..111699973-chr7:111702426..111704136,2	K562	blood:
45	chr7:111679099..111681078-chr7:111697466..111700106,2	MCF-7	breast:
46	chr7:111701489..111703722-chr7:111708917..111711831,2	MCF-7	breast:
47	chr7:111696985..111699973-chr7:111702426..111704136,2	K562	blood:
48	chr7:111711136..111713687-chr7:111723265..111726073,2	MCF-7	breast:
49	chr7:111654679..111656709-chr7:111671878..111674292,2	MCF-7	breast:
50	chr7:111667061..111669402-chr7:111698388..111701090,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128512	chromatin interactions
ENSG00000198839	chromatin interactions

Extended variants
information (count: 2726 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2726 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6466396	chr7:111666943-111666944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574014301	chr7:111666976-111666977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541332398	chr7:111667082-111667083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553261068	chr7:111667112-111667113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578069647	chr7:111667149-111667150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7808736	chr7:111667187-111667188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563819091	chr7:111667214-111667215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6466397	chr7:111667235-111667236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182704239	chr7:111667248-111667249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554782257	chr7:111667311-111667312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528801060	chr7:111667320-111667321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11982254	chr7:111667349-111667350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186576998	chr7:111667372-111667373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6952507	chr7:111667374-111667375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7785928	chr7:111667392-111667393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551057386	chr7:111667400-111667401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569767760	chr7:111667436-111667437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1634537	chr7:111667469-111667470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1634538	chr7:111667471-111667472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531965952	chr7:111667475-111667476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7804866	chr7:111667499-111667500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543278721	chr7:111667528-111667529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555649339	chr7:111667543-111667544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561580734	chr7:111667560-111667561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534759616	chr7:111667571-111667572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553324411	chr7:111667626-111667627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10273794	chr7:111667695-111667696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149372026	chr7:111667716-111667717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557049749	chr7:111667719-111667720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575740082	chr7:111667730-111667731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542744877	chr7:111667736-111667737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529030834	chr7:111667750-111667751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189597690	chr7:111667787-111667788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528664675	chr7:111667848-111667849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146343887	chr7:111667934-111667935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540400819	chr7:111667947-111667948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565205422	chr7:111667957-111667958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10274195	chr7:111667990-111667991	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532681237	chr7:111667995-111667996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551386727	chr7:111668031-111668032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569550317	chr7:111668058-111668059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139508257	chr7:111668085-111668086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182576764	chr7:111668126-111668127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567338702	chr7:111668163-111668164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75727673	chr7:111668195-111668196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553185792	chr7:111668208-111668209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559689108	chr7:111668249-111668250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144239507	chr7:111668250-111668251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530391392	chr7:111668275-111668276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557365961	chr7:111668331-111668332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	20824129	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1115 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111649400-111673800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:111651400-111668200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:111654600-111673400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:111662600-111671200	Weak transcription	Fetal Lung	lung
5	chr7:111663600-111668000	Weak transcription	Brain Angular Gyrus	brain
6	chr7:111664600-111669600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:111664800-111668000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:111665200-111668000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:111665400-111668000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:111665400-111669600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:111665600-111667800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:111665600-111667800	Weak transcription	Brain Substantia Nigra	brain
13	chr7:111665800-111669400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:111665800-111672600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:111665800-111672800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:111666000-111668400	Weak transcription	Brain Anterior Caudate	brain
17	chr7:111666000-111669600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:111666400-111667800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:111666400-111672600	Weak transcription	HUVEC	blood vessel
20	chr7:111666400-111673600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:111666400-111674600	Weak transcription	Lung	lung
22	chr7:111667800-111668600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:111667800-111668800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:111667800-111669000	Enhancers	Brain Substantia Nigra	brain
25	chr7:111667800-111674400	Enhancers	Brain Hippocampus Middle	brain
26	chr7:111668000-111669400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:111668000-111669400	Enhancers	Brain Cingulate Gyrus	brain
28	chr7:111668000-111669800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr7:111668000-111670400	Enhancers	Brain Angular Gyrus	brain
30	chr7:111668200-111669200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:111668400-111669400	Enhancers	Brain Anterior Caudate	brain
32	chr7:111668600-111669400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:111668800-111672600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:111669000-111670200	Weak transcription	Brain Substantia Nigra	brain
35	chr7:111669200-111683000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:111669400-111669800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:111669400-111670200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:111669400-111670400	Weak transcription	Brain Anterior Caudate	brain
39	chr7:111669400-111671000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:111669400-111672000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:111669600-111669800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:111669600-111670400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:111669600-111671000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr7:111669800-111671200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:111669800-111671200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:111669800-111672600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:111670200-111672400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:111670200-111674000	Enhancers	Brain Substantia Nigra	brain
49	chr7:111670400-111671200	Weak transcription	Brain Angular Gyrus	brain
50	chr7:111670400-111672200	Enhancers	Brain Anterior Caudate	brain

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