Variant report

Variant	nsv428183
Chromosome Location	chr7:110800911-110965533
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:116)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:116 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:110858722..110860508-chr7:110869419..110871427,2	K562	blood:
2	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
3	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
4	chr7:110941905..110944454-chr7:110944620..110946786,2	K562	blood:
5	chr7:110890356..110892390-chr7:110893967..110896589,2	K562	blood:
6	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
7	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
8	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
9	chr7:110873178..110876028-chr7:110879023..110881102,2	K562	blood:
10	chr7:110924432..110929578-chr7:110932859..110937635,6	K562	blood:
11	chr7:110148252..110150649-chr7:110845950..110847481,2	K562	blood:
12	chr7:110955341..110956918-chr7:110957234..110959729,2	K562	blood:
13	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
14	chr7:110922885..110927148-chr7:110927337..110932171,6	K562	blood:
15	chr7:110807402..110810065-chr7:110811637..110813724,2	K562	blood:
16	chr7:110901387..110901887-chr9:130159518..130160059,2	Hela-S3	cervix:
17	chr7:110924432..110929578-chr7:110932859..110937635,6	K562	blood:
18	chr7:110959106..110960834-chr7:110964696..110967313,2	K562	blood:
19	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
20	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
21	chr7:110867615..110869914-chr7:110870998..110874841,5	K562	blood:
22	chr7:110792860..110795164-chr7:110801067..110803231,2	MCF-7	breast:
23	chr7:110958175..110961174-chr7:110967524..110969443,2	K562	blood:
24	chr7:110807402..110810065-chr7:110811637..110813724,2	K562	blood:
25	chr7:110941905..110944454-chr7:110944620..110946786,2	K562	blood:
26	chr7:110948192..110950310-chr7:110952497..110954721,2	K562	blood:
27	chr7:110910606..110912820-chr7:110916912..110919074,2	K562	blood:
28	chr7:110812015..110813631-chr7:110817074..110819107,2	K562	blood:
29	chr7:110865069..110867467-chr7:110870810..110872460,2	K562	blood:
30	chr7:110822071..110825302-chr7:110827142..110830150,3	K562	blood:
31	chr7:110929795..110932437-chr7:110933207..110936083,3	K562	blood:
32	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
33	chr7:110959106..110960834-chr7:110964696..110967313,2	K562	blood:
34	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
35	chr7:110846499..110848352-chr7:110867218..110869031,2	MCF-7	breast:
36	chr7:110829508..110831617-chr7:110846112..110848748,2	K562	blood:
37	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
38	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
39	chr7:110907955..110909675-chr7:110912861..110914751,2	K562	blood:
40	chr7:110838767..110841477-chr7:110867993..110870087,3	K562	blood:
41	chr7:110858722..110860508-chr7:110869419..110871427,2	K562	blood:
42	chr7:110829508..110831617-chr7:110846112..110848748,2	K562	blood:
43	chr7:110864193..110867019-chr7:110872692..110875184,2	K562	blood:
44	chr7:110911704..110914495-chr7:111113882..111116767,2	K562	blood:
45	chr7:110934094..110935861-chr7:110939196..110941083,3	K562	blood:
46	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
47	chr7:110910606..110912820-chr7:110916912..110919074,2	K562	blood:
48	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
49	chr7:110953570..110955733-chr7:111376151..111377847,2	MCF-7	breast:
50	chr7:110907955..110909675-chr7:110912861..110914751,2	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: 5538 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:5538 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138191237	chr7:110800917-110800918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551619766	chr7:110800934-110800935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370388936	chr7:110800936-110800937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117766659	chr7:110801033-110801034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574614646	chr7:110801048-110801049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187765476	chr7:110801050-110801051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149567293	chr7:110801057-110801058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577061124	chr7:110801082-110801083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545921890	chr7:110801110-110801111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542658813	chr7:110801126-110801127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144580808	chr7:110801154-110801155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373334491	chr7:110801212-110801213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12705758	chr7:110801236-110801237	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530306458	chr7:110801292-110801293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148480177	chr7:110801306-110801307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563529694	chr7:110801308-110801309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114368122	chr7:110801317-110801318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545755831	chr7:110801352-110801353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552257535	chr7:110801357-110801358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191434824	chr7:110801376-110801377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141807488	chr7:110801385-110801386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535032930	chr7:110801439-110801440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548278777	chr7:110801456-110801457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562823841	chr7:110801554-110801555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150557657	chr7:110801556-110801557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536945581	chr7:110801566-110801567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557234924	chr7:110801580-110801581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116499620	chr7:110801620-110801621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539614208	chr7:110801621-110801622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183624951	chr7:110801622-110801623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78288525	chr7:110801655-110801656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541837260	chr7:110801666-110801667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561523097	chr7:110801671-110801672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575116182	chr7:110801679-110801680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115961110	chr7:110801734-110801735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371293891	chr7:110801763-110801764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374150401	chr7:110801771-110801772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527380138	chr7:110801775-110801776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563593273	chr7:110801777-110801778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532589814	chr7:110801808-110801809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552318865	chr7:110801813-110801814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111351871	chr7:110801832-110801833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547557303	chr7:110801917-110801918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559457602	chr7:110801984-110801985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28590134	chr7:110802012-110802013	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532253147	chr7:110802026-110802027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144275531	chr7:110802045-110802046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568356387	chr7:110802054-110802055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370480352	chr7:110802061-110802062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188240294	chr7:110802085-110802086	Enhancers 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:695 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110799000-110803000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:110799600-110804400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:110800200-110801200	Weak transcription	Osteobl	bone
4	chr7:110800600-110801000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:110801000-110801800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:110801200-110801800	Enhancers	Osteobl	bone
7	chr7:110801800-110802600	Weak transcription	Osteobl	bone
8	chr7:110802200-110803600	Enhancers	HepG2	liver
9	chr7:110802600-110802800	Enhancers	Osteobl	bone
10	chr7:110803000-110803400	Enhancers	Lung	lung
11	chr7:110803400-110808000	Weak transcription	Lung	lung
12	chr7:110804400-110804600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:110804400-110805200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:110804600-110805400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:110805000-110805400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:110805400-110807000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:110805400-110807400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:110805800-110806000	Enhancers	Psoas Muscle	Psoas
19	chr7:110806600-110806800	Enhancers	Psoas Muscle	Psoas
20	chr7:110807000-110809200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:110807400-110809000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:110807800-110808600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr7:110808200-110808600	Enhancers	NHDF-Ad	bronchial
24	chr7:110808200-110809000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:110808400-110808600	Enhancers	Colon Smooth Muscle	Colon
26	chr7:110808400-110808600	Enhancers	Fetal Brain Male	brain
27	chr7:110808400-110808800	Enhancers	Rectal Smooth Muscle	rectum
28	chr7:110808600-110812600	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:110808600-110814000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:110808800-110812800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:110812400-110813600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:110812600-110813000	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr7:110812600-110814800	Enhancers	Colon Smooth Muscle	Colon
34	chr7:110812800-110813200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:110812800-110813600	Enhancers	Rectal Smooth Muscle	rectum
36	chr7:110812800-110813600	Enhancers	K562	blood
37	chr7:110813600-110814000	Flanking Active TSS	K562	blood
38	chr7:110814000-110814600	Enhancers	Brain Germinal Matrix	brain
39	chr7:110814000-110815000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr7:110814000-110830600	Weak transcription	K562	blood
41	chr7:110814600-110815000	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr7:110815000-110815600	Enhancers	Brain Germinal Matrix	brain
43	chr7:110815800-110816600	Enhancers	Primary T cells from cord blood	blood
44	chr7:110815800-110816600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:110816200-110816400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr7:110816200-110816600	Enhancers	Dnd41	blood
47	chr7:110816200-110816800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:110816400-110830600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:110816600-110819600	Weak transcription	Primary T cells from cord blood	blood
50	chr7:110817800-110825200	Weak transcription	Primary hematopoietic stem cells	blood

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