Variant report

Variant	nsv888976
Chromosome Location	chr7:110773099-110959881
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:124)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:124 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
2	chr7:110812015..110813631-chr7:110817074..110819107,2	K562	blood:
3	chr7:110865069..110867467-chr7:110870810..110872460,2	K562	blood:
4	chr7:110860948..110867491-chr7:110867576..110875570,9	K562	blood:
5	chr7:110935982..110938365-chr7:110942817..110944691,2	K562	blood:
6	chr7:110919285..110921892-chr7:110924129..110926222,2	K562	blood:
7	chr7:110784339..110787250-chr7:110788420..110790472,2	K562	blood:
8	chr7:110953570..110955733-chr7:111376151..111377847,2	MCF-7	breast:
9	chr7:110941321..110943443-chr7:111373654..111375242,2	K562	blood:
10	chr7:110850499..110852525-chr7:110861582..110863250,2	K562	blood:
11	chr7:110946494..110948605-chr7:110949688..110952299,2	K562	blood:
12	chr7:110794617..110796472-chr7:110809802..110811971,2	K562	blood:
13	chr7:110846405..110848807-chr7:110859320..110861910,2	K562	blood:
14	chr7:110924432..110929578-chr7:110932859..110937635,6	K562	blood:
15	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
16	chr7:110924432..110929578-chr7:110932859..110937635,6	K562	blood:
17	chr7:110910606..110912820-chr7:110916912..110919074,2	K562	blood:
18	chr7:110794617..110796472-chr7:110809802..110811971,2	K562	blood:
19	chr7:110948192..110950310-chr7:110952497..110954721,2	K562	blood:
20	chr7:110904002..110906677-chr7:110908987..110911839,2	K562	blood:
21	chr7:110790879..110793527-chr7:110798511..110801255,3	K562	blood:
22	chr7:110845330..110847607-chr7:110862386..110864699,2	K562	blood:
23	chr7:110890356..110892390-chr7:110893967..110896589,2	K562	blood:
24	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
25	chr7:110858722..110860508-chr7:110869419..110871427,2	K562	blood:
26	chr7:110919285..110921892-chr7:110924129..110926222,2	K562	blood:
27	chr7:110941905..110944454-chr7:110944620..110946786,2	K562	blood:
28	chr7:110907955..110909675-chr7:110912861..110914751,2	K562	blood:
29	chr7:110812015..110813631-chr7:110817074..110819107,2	K562	blood:
30	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
31	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
32	chr7:110934094..110935861-chr7:110939196..110941083,3	K562	blood:
33	chr7:110829508..110831617-chr7:110846112..110848748,2	K562	blood:
34	chr7:110864193..110867019-chr7:110872692..110875184,2	K562	blood:
35	chr7:110780555..110783082-chr7:110783527..110786521,2	K562	blood:
36	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
37	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
38	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
39	chr7:110958175..110961174-chr7:110967524..110969443,2	K562	blood:
40	chr7:110807402..110810065-chr7:110811637..110813724,2	K562	blood:
41	chr7:110787029..110788702-chr7:110791625..110793971,2	K562	blood:
42	chr7:110858379..110861216-chr7:110867269..110869936,2	MCF-7	breast:
43	chr7:110934094..110935861-chr7:110939196..110941083,3	K562	blood:
44	chr7:110959106..110960834-chr7:110964696..110967313,2	K562	blood:
45	chr7:110946188..110948736-chr7:111369766..111372546,2	K562	blood:
46	chr7:110846405..110848807-chr7:110859320..110861910,2	K562	blood:
47	chr7:110860948..110867491-chr7:110867576..110875570,9	K562	blood:
48	chr7:110941905..110944454-chr7:110944620..110946786,2	K562	blood:
49	chr7:110890356..110892390-chr7:110893967..110896589,2	K562	blood:
50	chr7:110807402..110810065-chr7:110811637..110813724,2	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: 6063 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:6063 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs214859	chr7:110773099-110773100	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78527864	chr7:110773124-110773125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543535355	chr7:110773199-110773200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375201928	chr7:110773227-110773228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532363535	chr7:110773230-110773231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139087866	chr7:110773305-110773306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559226547	chr7:110773320-110773321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528342620	chr7:110773327-110773328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77797219	chr7:110773328-110773329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142266958	chr7:110773351-110773352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530661535	chr7:110773369-110773370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550801259	chr7:110773394-110773395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550402303	chr7:110773497-110773498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570501647	chr7:110773638-110773639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539447516	chr7:110773676-110773677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143204889	chr7:110773722-110773723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566395331	chr7:110773723-110773724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534971714	chr7:110773787-110773788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563196345	chr7:110773799-110773800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148238472	chr7:110773826-110773827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74521389	chr7:110773827-110773828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141265547	chr7:110773830-110773831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543941132	chr7:110773836-110773837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112266292	chr7:110773846-110773847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73420029	chr7:110773912-110773913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576880183	chr7:110773930-110773931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557952296	chr7:110773932-110773933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551795709	chr7:110774006-110774007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185911819	chr7:110774028-110774029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150733960	chr7:110774062-110774063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188242192	chr7:110774106-110774107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533590824	chr7:110774131-110774132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558087226	chr7:110774133-110774134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541738394	chr7:110774152-110774153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561967074	chr7:110774154-110774155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528110386	chr7:110774182-110774183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530611435	chr7:110774190-110774191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77175616	chr7:110774251-110774252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181433035	chr7:110774274-110774275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533029444	chr7:110774294-110774295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs137937202	chr7:110774317-110774318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71572837	chr7:110774320-110774321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185626259	chr7:110774366-110774367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554959750	chr7:110774386-110774387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568698020	chr7:110774392-110774393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28753698	chr7:110774428-110774429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs142503821	chr7:110774455-110774456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145936535	chr7:110774501-110774502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147970571	chr7:110774550-110774551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112937308	chr7:110774573-110774574	Weak 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
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
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Schizophrenia	23813976	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21509527	CNVD
Glioma	20126413	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110753000-110778000	Weak transcription	Ovary	ovary
2	chr7:110764800-110773200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:110764800-110777800	Weak transcription	Primary T cells from cord blood	blood
4	chr7:110771400-110777800	Weak transcription	Aorta	Aorta
5	chr7:110772400-110773200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:110772400-110773200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:110772400-110773600	Enhancers	Hela-S3	cervix
8	chr7:110772800-110773400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:110772800-110773400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:110772800-110773400	Enhancers	HUVEC	blood vessel
11	chr7:110773000-110773400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr7:110773000-110773400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:110773000-110773400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:110773000-110773400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:110773000-110773800	Enhancers	A549	lung
16	chr7:110773200-110773600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:110773200-110773600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:110773200-110776600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:110773200-110777400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:110773400-110777600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:110773400-110777600	Weak transcription	HUVEC	blood vessel
22	chr7:110773400-110777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:110773400-110778000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:110773400-110778000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:110773600-110776800	Weak transcription	Hela-S3	cervix
26	chr7:110773600-110778000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:110773800-110778000	Weak transcription	A549	lung
28	chr7:110776600-110779800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:110776800-110777800	Enhancers	Hela-S3	cervix
30	chr7:110776800-110780000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:110777000-110777800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:110777000-110778000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:110777000-110778400	Enhancers	Small Intestine	intestine
34	chr7:110777200-110779000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:110777400-110777600	Active TSS	GM12878-XiMat	blood
36	chr7:110777400-110778200	Enhancers	Dnd41	blood
37	chr7:110777400-110779200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:110777400-110780600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:110777600-110778600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:110777600-110778600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:110777600-110778800	Flanking Active TSS	GM12878-XiMat	blood
42	chr7:110777600-110779000	Enhancers	Primary hematopoietic stem cells	blood
43	chr7:110777600-110779400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:110777600-110779400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr7:110777600-110779400	Enhancers	HUVEC	blood vessel
46	chr7:110777600-110779400	Enhancers	NHDF-Ad	bronchial
47	chr7:110777600-110780200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr7:110777600-110780600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:110777800-110778000	Enhancers	Primary T cells from cord blood	blood
50	chr7:110777800-110778000	Enhancers	Aorta	Aorta

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