Variant report

Variant	nsv869830
Chromosome Location	chr7:110817744-111025319
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:165)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:165 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
2	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
3	chr7:110910606..110912820-chr7:110916912..110919074,2	K562	blood:
4	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
5	chr7:110989989..110992007-chr7:110993979..110995982,2	K562	blood:
6	chr7:110948192..110950310-chr7:110952497..110954721,2	K562	blood:
7	chr7:110935982..110938365-chr7:110942817..110944691,2	K562	blood:
8	chr7:110907955..110909675-chr7:110912861..110914751,2	K562	blood:
9	chr7:110973996..110977417-chr7:110978130..110980823,3	K562	blood:
10	chr7:110983062..110985792-chr7:110987528..110989399,4	K562	blood:
11	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
12	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
13	chr7:110955341..110956918-chr7:110957234..110959729,2	K562	blood:
14	chr7:110901427..110902958-chr7:110904579..110907166,2	MCF-7	breast:
15	chr7:110970635..110973843-chr7:110975141..110978905,5	K562	blood:
16	chr7:110934094..110935861-chr7:110939196..110941083,3	K562	blood:
17	chr7:111014312..111015875-chr7:111016018..111018954,2	MCF-7	breast:
18	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
19	chr7:111008511..111011324-chr7:111012744..111015031,2	K562	blood:
20	chr7:110991909..110993941-chr7:110997470..110999246,2	K562	blood:
21	chr7:111017537..111020347-chr7:111082285..111084321,2	K562	blood:
22	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
23	chr7:110865069..110867467-chr7:110870810..110872460,2	K562	blood:
24	chr7:110934094..110935861-chr7:110939196..110941083,3	K562	blood:
25	chr7:110919663..110921773-chr7:111080756..111083394,2	K562	blood:
26	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
27	chr7:110991909..110993941-chr7:110997470..110999246,2	K562	blood:
28	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
29	chr7:110959106..110960834-chr7:110964696..110967313,2	K562	blood:
30	chr7:110148252..110150649-chr7:110845950..110847481,2	K562	blood:
31	chr7:110962569..110964668-chr7:110968085..110971412,3	K562	blood:
32	chr7:110970018..110971875-chr7:110977199..110979815,2	K562	blood:
33	chr7:111003207..111005251-chr7:111008050..111010228,2	K562	blood:
34	chr7:111025105..111026879-chr7:111027995..111029881,2	K562	blood:
35	chr7:110929795..110932437-chr7:110933207..110936083,3	K562	blood:
36	chr7:110946494..110948605-chr7:110949688..110952299,2	K562	blood:
37	chr7:110969454..110970228-chr7:111375556..111376647,3	MCF-7	breast:
38	chr7:110983062..110985792-chr7:110987528..110989399,4	K562	blood:
39	chr7:110845330..110847607-chr7:110862386..110864699,2	K562	blood:
40	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
41	chr7:110975243..110978153-chr7:110979724..110981495,2	K562	blood:
42	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
43	chr7:110846499..110848352-chr7:110867218..110869031,2	MCF-7	breast:
44	chr7:110969600..110972534-chr7:111078171..111081389,3	K562	blood:
45	chr7:110919285..110921892-chr7:110924129..110926222,2	K562	blood:
46	chr7:110997175..111000339-chr7:111001551..111003490,3	K562	blood:
47	chr7:110941905..110944454-chr7:110944620..110946786,2	K562	blood:
48	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
49	chr7:110919285..110921892-chr7:110924129..110926222,2	K562	blood:
50	chr7:110901387..110901887-chr9:130159518..130160059,2	Hela-S3	cervix:

(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
ENSG00000184903	chromatin interactions

Extended variants
information (count: 7052 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:7052 , 50 per page) page: 1 2 3 4 5 6 7 ... 142

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541690204	chr7:110817820-110817821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539615925	chr7:110817856-110817857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553528618	chr7:110817987-110817988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189152014	chr7:110818110-110818111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542293232	chr7:110818121-110818122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180884214	chr7:110818125-110818126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527929890	chr7:110818156-110818157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185248892	chr7:110818167-110818168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370526412	chr7:110818172-110818173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544511484	chr7:110818236-110818237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564199421	chr7:110818294-110818295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10248799	chr7:110818314-110818315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540023408	chr7:110818324-110818325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565362281	chr7:110818362-110818363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559855602	chr7:110818377-110818378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189622877	chr7:110818392-110818393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548620221	chr7:110818402-110818403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141415760	chr7:110818437-110818438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550118603	chr7:110818441-110818442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7792161	chr7:110818458-110818459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551276581	chr7:110818477-110818478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547607297	chr7:110818482-110818483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540056091	chr7:110818534-110818535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6466374	chr7:110818559-110818560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs147018895	chr7:110818573-110818574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376336191	chr7:110818595-110818596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531916817	chr7:110818600-110818601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565799947	chr7:110818632-110818633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535964346	chr7:110818665-110818666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536160499	chr7:110818709-110818710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575617812	chr7:110818734-110818735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536899659	chr7:110818741-110818742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186206298	chr7:110818753-110818754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148024702	chr7:110818758-110818759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577851824	chr7:110818770-110818771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73420054	chr7:110818807-110818808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191965788	chr7:110818835-110818836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141745799	chr7:110818878-110818879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183238758	chr7:110818880-110818881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562414050	chr7:110818897-110818898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555293133	chr7:110818918-110818919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551071561	chr7:110818945-110818946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12673888	chr7:110818948-110818949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35327229	chr7:110819015-110819016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187926185	chr7:110819025-110819026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529289068	chr7:110819050-110819051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547346522	chr7:110819051-110819052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192654575	chr7:110819101-110819102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536031131	chr7:110819127-110819128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549529115	chr7:110819135-110819136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:887 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110814000-110830600	Weak transcription	K562	blood
2	chr7:110816400-110830600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:110816600-110819600	Weak transcription	Primary T cells from cord blood	blood
4	chr7:110817800-110825200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:110819400-110820200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr7:110819400-110820200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:110819600-110820600	Strong transcription	Primary T cells from cord blood	blood
8	chr7:110820600-110824600	Weak transcription	Primary T cells from cord blood	blood
9	chr7:110822400-110822600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr7:110822400-110823600	Enhancers	Fetal Lung	lung
11	chr7:110823000-110823800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:110823400-110824000	Enhancers	Fetal Heart	heart
13	chr7:110823400-110824000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr7:110823600-110823800	Flanking Active TSS	Fetal Lung	lung
15	chr7:110823600-110824000	Enhancers	Fetal Brain Male	brain
16	chr7:110823800-110824000	Enhancers	Fetal Lung	lung
17	chr7:110824000-110824400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:110824000-110824800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:110824000-110825000	Weak transcription	Fetal Brain Male	brain
20	chr7:110824000-110825000	Weak transcription	Fetal Heart	heart
21	chr7:110824400-110825400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:110824600-110825400	Enhancers	Primary T cells from cord blood	blood
23	chr7:110825000-110825200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr7:110825000-110825400	Enhancers	Fetal Heart	heart
25	chr7:110825000-110825400	Enhancers	Psoas Muscle	Psoas
26	chr7:110825200-110825400	Enhancers	Fetal Brain Male	brain
27	chr7:110825200-110825400	Enhancers	NH-A	brain
28	chr7:110825400-110825600	Weak transcription	NH-A	brain
29	chr7:110825400-110833000	Weak transcription	Psoas Muscle	Psoas
30	chr7:110828000-110828400	Enhancers	Gastric	stomach
31	chr7:110830600-110830800	Enhancers	K562	blood
32	chr7:110830800-110831200	Flanking Active TSS	K562	blood
33	chr7:110830800-110831400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr7:110831200-110832000	Enhancers	K562	blood
35	chr7:110831400-110832800	Enhancers	A549	lung
36	chr7:110831600-110832000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:110831800-110833800	Enhancers	Liver	Liver
38	chr7:110832000-110832800	Weak transcription	K562	blood
39	chr7:110832400-110833400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:110832600-110833000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr7:110832600-110833200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:110832600-110833400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:110832600-110833600	Enhancers	HepG2	liver
44	chr7:110832800-110833000	Enhancers	K562	blood
45	chr7:110832800-110833200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:110832800-110833200	Flanking Active TSS	A549	lung
47	chr7:110832800-110833600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:110833000-110833200	Enhancers	Psoas Muscle	Psoas
49	chr7:110833000-110833400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:110833000-110833600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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