Variant report

Variant	nsv1033647
Chromosome Location	chr7:110766750-110923436
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:94)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:94 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:110846499..110848352-chr7:110867218..110869031,2	MCF-7	breast:
2	chr7:110780555..110783082-chr7:110783527..110786521,2	K562	blood:
3	chr7:110904002..110906677-chr7:110908987..110911839,2	K562	blood:
4	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
5	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
6	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
7	chr7:110846499..110848352-chr7:110867218..110869031,2	MCF-7	breast:
8	chr7:110148252..110150649-chr7:110845950..110847481,2	K562	blood:
9	chr7:110766284..110768061-chr7:110775175..110776979,2	K562	blood:
10	chr7:110790879..110793527-chr7:110798511..110801255,3	K562	blood:
11	chr7:110772454..110774520-chr7:110775705..110777791,2	K562	blood:
12	chr7:110843665..110845702-chr7:110845783..110848771,2	K562	blood:
13	chr7:110904002..110906677-chr7:110908987..110911839,2	K562	blood:
14	chr7:110829508..110831617-chr7:110846112..110848748,2	K562	blood:
15	chr7:110831361..110833166-chr7:110833300..110836060,2	K562	blood:
16	chr7:110780555..110783082-chr7:110783527..110786521,2	K562	blood:
17	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
18	chr7:110867615..110869914-chr7:110870998..110874841,5	K562	blood:
19	chr7:110919663..110921773-chr7:111080756..111083394,2	K562	blood:
20	chr7:110792860..110795164-chr7:110801067..110803231,2	MCF-7	breast:
21	chr7:110822071..110825302-chr7:110827142..110830150,3	K562	blood:
22	chr7:110792860..110795164-chr7:110801067..110803231,2	MCF-7	breast:
23	chr7:110794617..110796472-chr7:110809802..110811971,2	K562	blood:
24	chr7:110864193..110867019-chr7:110872692..110875184,2	K562	blood:
25	chr7:110784339..110787250-chr7:110788420..110790472,2	K562	blood:
26	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
27	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
28	chr7:110864193..110867019-chr7:110872692..110875184,2	K562	blood:
29	chr7:110858379..110861216-chr7:110867269..110869936,2	MCF-7	breast:
30	chr7:110910606..110912820-chr7:110916912..110919074,2	K562	blood:
31	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
32	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
33	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
34	chr7:110794617..110796472-chr7:110809802..110811971,2	K562	blood:
35	chr7:110831361..110833166-chr7:110833300..110836060,2	K562	blood:
36	chr7:110772454..110774520-chr7:110775705..110777791,2	K562	blood:
37	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
38	chr7:110922885..110927148-chr7:110927337..110932171,6	K562	blood:
39	chr7:110860948..110867491-chr7:110867576..110875570,9	K562	blood:
40	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
41	chr7:110865069..110867467-chr7:110870810..110872460,2	K562	blood:
42	chr7:110822071..110825302-chr7:110827142..110830150,3	K562	blood:
43	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
44	chr7:110860948..110867491-chr7:110867576..110875570,9	K562	blood:
45	chr7:110901427..110902958-chr7:110904579..110907166,2	MCF-7	breast:
46	chr7:110907955..110909675-chr7:110912861..110914751,2	K562	blood:
47	chr7:110730146..110732609-chr7:110768211..110770026,2	K562	blood:
48	chr7:110845330..110847607-chr7:110862386..110864699,2	K562	blood:
49	chr7:110910606..110912820-chr7:110916912..110919074,2	K562	blood:
50	chr7:110812015..110813631-chr7:110817074..110819107,2	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
ENSG00000173114	chromatin interactions

Extended variants
information (count: 5266 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:5266 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs214863	chr7:110766750-110766751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566517831	chr7:110766780-110766781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113740871	chr7:110766788-110766789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535431476	chr7:110766816-110766817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575410314	chr7:110766818-110766819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370777791	chr7:110766835-110766836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542650361	chr7:110766844-110766845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555359299	chr7:110766861-110766862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575100005	chr7:110767019-110767020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537314178	chr7:110767061-110767062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187278129	chr7:110767155-110767156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577347126	chr7:110767197-110767198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545940575	chr7:110767237-110767238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189307375	chr7:110767244-110767245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572963169	chr7:110767248-110767249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143800993	chr7:110767319-110767320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561718606	chr7:110767331-110767332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530847891	chr7:110767393-110767394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180738073	chr7:110767409-110767410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186446987	chr7:110767411-110767412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs214862	chr7:110767426-110767427	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549587928	chr7:110767506-110767507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148952618	chr7:110767510-110767511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528947417	chr7:110767511-110767512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143727760	chr7:110767518-110767519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568746957	chr7:110767549-110767550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376222558	chr7:110767551-110767552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557370518	chr7:110767554-110767555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574278259	chr7:110767596-110767597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539654726	chr7:110767609-110767610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553104877	chr7:110767726-110767727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147001417	chr7:110767741-110767742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541885653	chr7:110767742-110767743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138211274	chr7:110767750-110767751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575527502	chr7:110767801-110767802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544539732	chr7:110767802-110767803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564212089	chr7:110767807-110767808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548973204	chr7:110767862-110767863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375964267	chr7:110767867-110767868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190048972	chr7:110767902-110767903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75954245	chr7:110767940-110767941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560357746	chr7:110767959-110767960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529035096	chr7:110767961-110767962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549080671	chr7:110767970-110767971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541335853	chr7:110767995-110767996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568883673	chr7:110768096-110768097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531198987	chr7:110768165-110768166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570999559	chr7:110768282-110768283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551315547	chr7:110768284-110768285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571061832	chr7:110768299-110768300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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

Chromatin state (count:805 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110737400-110767000	Weak transcription	Brain Angular Gyrus	brain
2	chr7:110745600-110770000	Weak transcription	Brain Anterior Caudate	brain
3	chr7:110753000-110778000	Weak transcription	Ovary	ovary
4	chr7:110754800-110770800	Weak transcription	Fetal Brain Male	brain
5	chr7:110763000-110766800	Weak transcription	Adipose Nuclei	Adipose
6	chr7:110764000-110767800	Weak transcription	Aorta	Aorta
7	chr7:110764200-110769600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:110764200-110769600	Weak transcription	Brain Germinal Matrix	brain
9	chr7:110764400-110767800	Weak transcription	Fetal Lung	lung
10	chr7:110764400-110769600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:110764600-110768600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr7:110764800-110769200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:110764800-110773200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:110764800-110777800	Weak transcription	Primary T cells from cord blood	blood
15	chr7:110765000-110767200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:110766800-110767200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:110766800-110767200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:110767000-110767200	Enhancers	Brain Angular Gyrus	brain
19	chr7:110767000-110767400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:110767000-110767400	Enhancers	A549	lung
21	chr7:110767200-110767600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:110767400-110767800	Enhancers	Colon Smooth Muscle	Colon
23	chr7:110767600-110768800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:110768800-110771000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:110769600-110769800	Enhancers	Brain Germinal Matrix	brain
26	chr7:110769600-110770200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:110769600-110770600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:110770000-110770200	Enhancers	Brain Anterior Caudate	brain
29	chr7:110770600-110773000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:110771400-110777800	Weak transcription	Aorta	Aorta
31	chr7:110772400-110773200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:110772400-110773200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:110772400-110773600	Enhancers	Hela-S3	cervix
34	chr7:110772800-110773400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:110772800-110773400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:110772800-110773400	Enhancers	HUVEC	blood vessel
37	chr7:110773000-110773400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr7:110773000-110773400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:110773000-110773400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:110773000-110773400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:110773000-110773800	Enhancers	A549	lung
42	chr7:110773200-110773600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:110773200-110773600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:110773200-110776600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:110773200-110777400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:110773400-110777600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:110773400-110777600	Weak transcription	HUVEC	blood vessel
48	chr7:110773400-110777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:110773400-110778000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:110773400-110778000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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