Variant report

Variant	nsv1033643
Chromosome Location	chr7:110867640-110944477
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:47)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:110935982..110938365-chr7:110942817..110944691,2	K562	blood:
2	chr7:110873178..110876028-chr7:110879023..110881102,2	K562	blood:
3	chr7:110934094..110935861-chr7:110939196..110941083,3	K562	blood:
4	chr7:110858379..110861216-chr7:110867269..110869936,2	MCF-7	breast:
5	chr7:110911704..110914495-chr7:111113882..111116767,2	K562	blood:
6	chr7:110919663..110921773-chr7:111080756..111083394,2	K562	blood:
7	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
8	chr7:110935982..110938365-chr7:110942817..110944691,2	K562	blood:
9	chr7:110901387..110901887-chr9:130159518..130160059,2	Hela-S3	cervix:
10	chr7:110919285..110921892-chr7:110924129..110926222,2	K562	blood:
11	chr7:110934094..110935861-chr7:110939196..110941083,3	K562	blood:
12	chr7:110864193..110867019-chr7:110872692..110875184,2	K562	blood:
13	chr7:110865069..110867467-chr7:110870810..110872460,2	K562	blood:
14	chr7:110846499..110848352-chr7:110867218..110869031,2	MCF-7	breast:
15	chr7:110890356..110892390-chr7:110893967..110896589,2	K562	blood:
16	chr7:110907955..110909675-chr7:110912861..110914751,2	K562	blood:
17	chr7:110929795..110932437-chr7:110933207..110936083,3	K562	blood:
18	chr7:110907955..110909675-chr7:110912861..110914751,2	K562	blood:
19	chr7:110922885..110927148-chr7:110927337..110932171,6	K562	blood:
20	chr7:110904002..110906677-chr7:110908987..110911839,2	K562	blood:
21	chr7:110919285..110921892-chr7:110924129..110926222,2	K562	blood:
22	chr7:110867615..110869914-chr7:110870998..110874841,5	K562	blood:
23	chr7:110924432..110929578-chr7:110932859..110937635,6	K562	blood:
24	chr7:110910606..110912820-chr7:110916912..110919074,2	K562	blood:
25	chr7:110929795..110932437-chr7:110933207..110936083,3	K562	blood:
26	chr7:110924432..110929578-chr7:110932859..110937635,6	K562	blood:
27	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
28	chr7:110867615..110869914-chr7:110870998..110874841,5	K562	blood:
29	chr7:110924432..110926999-chr7:110933691..110937635,4	K562	blood:
30	chr7:110910606..110912820-chr7:110916912..110919074,2	K562	blood:
31	chr7:110924808..110925532-chr7:111126328..111127072,2	MCF-7	breast:
32	chr7:110860948..110867491-chr7:110867576..110875570,9	K562	blood:
33	chr7:110901427..110902958-chr7:110904579..110907166,2	MCF-7	breast:
34	chr7:110904002..110906677-chr7:110908987..110911839,2	K562	blood:
35	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
36	chr7:110922885..110927148-chr7:110927337..110932171,6	K562	blood:
37	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
38	chr7:110838767..110841477-chr7:110867993..110870087,3	K562	blood:
39	chr7:110901427..110902958-chr7:110904579..110907166,2	MCF-7	breast:
40	chr7:110890356..110892390-chr7:110893967..110896589,2	K562	blood:
41	chr7:110941321..110943443-chr7:111373654..111375242,2	K562	blood:
42	chr7:110941905..110944454-chr7:110944620..110946786,2	K562	blood:
43	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
44	chr7:110858722..110860508-chr7:110869419..110871427,2	K562	blood:
45	chr7:110873178..110876028-chr7:110879023..110881102,2	K562	blood:
46	chr7:110924432..110926999-chr7:110933691..110937635,4	K562	blood:
47	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DOCK4-7	chr7:110902289-110902553	expReg_chr7_8342_-

No data

Variant related genes	Relation type
ENSG00000136856	chromatin interactions

Extended variants
information (count: 2584 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2584 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6966306	chr7:110867700-110867701	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186945984	chr7:110867715-110867716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191258865	chr7:110867717-110867718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563101253	chr7:110867720-110867721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530298565	chr7:110867776-110867777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114730560	chr7:110867854-110867855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116615116	chr7:110867855-110867856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553435356	chr7:110867869-110867870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548433360	chr7:110867875-110867876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572961188	chr7:110867892-110867893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560630585	chr7:110867911-110867912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145477631	chr7:110867913-110867914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114052487	chr7:110867973-110867974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375309824	chr7:110867977-110867978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575188295	chr7:110867980-110867981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184182041	chr7:110868070-110868071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6949007	chr7:110868077-110868078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533151613	chr7:110868100-110868101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527685687	chr7:110868120-110868121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540010302	chr7:110868174-110868175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560302591	chr7:110868184-110868185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188144007	chr7:110868187-110868188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192928967	chr7:110868216-110868217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62466688	chr7:110868231-110868232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144225179	chr7:110868232-110868233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201092831	chr7:110868382-110868383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373249837	chr7:110868383-110868384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113545345	chr7:110868427-110868428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111447855	chr7:110868449-110868450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540033770	chr7:110868462-110868463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185410599	chr7:110868489-110868490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544065883	chr7:110868515-110868516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189986889	chr7:110868566-110868567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182019197	chr7:110868575-110868576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535533800	chr7:110868577-110868578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs37710	chr7:110868604-110868605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555376942	chr7:110868625-110868626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575226924	chr7:110868648-110868649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184560030	chr7:110868678-110868679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560868092	chr7:110868711-110868712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188175551	chr7:110868763-110868764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577823326	chr7:110868783-110868784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180745240	chr7:110868788-110868789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151010458	chr7:110868790-110868791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112911021	chr7:110868865-110868866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573812635	chr7:110868880-110868881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542733138	chr7:110868891-110868892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186408329	chr7:110868897-110868898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549372511	chr7:110868901-110868902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531338948	chr7:110868923-110868924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Melanoma	17363583	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21509527	CNVD
Autism	20531469	CNVD

Chromatin state (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110865000-110869600	Weak transcription	Adipose Nuclei	Adipose
2	chr7:110865000-110872200	Weak transcription	Osteobl	bone
3	chr7:110865200-110872600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:110865800-110869800	Weak transcription	A549	lung
5	chr7:110866800-110867800	Enhancers	HUVEC	blood vessel
6	chr7:110866800-110867800	Enhancers	K562	blood
7	chr7:110867000-110867800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:110867400-110868400	Weak transcription	Psoas Muscle	Psoas
9	chr7:110867400-110869400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:110867400-110869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:110867400-110870800	Weak transcription	NHDF-Ad	bronchial
12	chr7:110867400-110872400	Weak transcription	Placenta	Placenta
13	chr7:110867800-110871800	Weak transcription	HUVEC	blood vessel
14	chr7:110867800-110872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:110867800-110872400	Weak transcription	K562	blood
16	chr7:110868400-110868600	Enhancers	Psoas Muscle	Psoas
17	chr7:110869400-110871600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:110869600-110870600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:110869600-110871400	Enhancers	Adipose Nuclei	Adipose
20	chr7:110869800-110871000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:110869800-110871200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:110869800-110872400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:110869800-110872400	Enhancers	A549	lung
24	chr7:110870000-110871000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:110870200-110870400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:110870200-110870600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:110870200-110871000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:110870400-110872800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:110870600-110872400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:110870600-110872400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:110870800-110871000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:110870800-110871200	Enhancers	NHDF-Ad	bronchial
33	chr7:110871000-110871600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:110871000-110872200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:110871000-110878600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:110871200-110872400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:110871200-110872400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:110871200-110872400	Weak transcription	NHDF-Ad	bronchial
39	chr7:110871400-110871800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:110871400-110878400	Weak transcription	Adipose Nuclei	Adipose
41	chr7:110871600-110871800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:110871600-110872400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:110871800-110872200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:110871800-110872800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:110871800-110873200	Enhancers	HUVEC	blood vessel
46	chr7:110872200-110872800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:110872200-110873200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:110872200-110873200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:110872200-110873200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:110872200-110873200	Enhancers	Osteobl	bone

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