Variant report

Variant	nsv1028782
Chromosome Location	chr7:110877992-111012486
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:102)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:102 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:110970635..110973843-chr7:110975141..110978905,5	K562	blood:
2	chr7:110901387..110901887-chr9:130159518..130160059,2	Hela-S3	cervix:
3	chr7:110924432..110929578-chr7:110932859..110937635,6	K562	blood:
4	chr7:110948192..110950310-chr7:110952497..110954721,2	K562	blood:
5	chr7:111003207..111005251-chr7:111008050..111010228,2	K562	blood:
6	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
7	chr7:110962569..110964668-chr7:110968085..110971412,3	K562	blood:
8	chr7:110901427..110902958-chr7:110904579..110907166,2	MCF-7	breast:
9	chr7:110963413..110966213-chr7:110967085..110969024,2	K562	blood:
10	chr7:110959106..110960834-chr7:110964696..110967313,2	K562	blood:
11	chr7:110989989..110992007-chr7:110993979..110995982,2	K562	blood:
12	chr7:110934094..110935861-chr7:110939196..110941083,3	K562	blood:
13	chr7:110968689..110972135-chr7:110972915..110976641,3	K562	blood:
14	chr7:110970635..110973843-chr7:110975141..110978905,5	K562	blood:
15	chr7:110964713..110967341-chr7:110967524..110969143,2	K562	blood:
16	chr7:110977304..110981066-chr7:110982767..110987604,6	K562	blood:
17	chr7:111008511..111011324-chr7:111012744..111015031,2	K562	blood:
18	chr7:110922885..110927148-chr7:110927337..110932171,6	K562	blood:
19	chr7:110978869..110982048-chr7:110982767..110985792,3	K562	blood:
20	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
21	chr7:110941321..110943443-chr7:111373654..111375242,2	K562	blood:
22	chr7:110953570..110955733-chr7:111376151..111377847,2	MCF-7	breast:
23	chr7:110962126..110964268-chr7:110964422..110967257,2	K562	blood:
24	chr7:110970018..110971875-chr7:110977199..110979815,2	K562	blood:
25	chr7:110975243..110978153-chr7:110979724..110981495,2	K562	blood:
26	chr7:110983062..110985792-chr7:110987528..110989399,4	K562	blood:
27	chr7:110922885..110927148-chr7:110927337..110932171,6	K562	blood:
28	chr7:110985007..110987369-chr7:110994363..110996141,2	K562	blood:
29	chr7:110934094..110935861-chr7:110939196..110941083,3	K562	blood:
30	chr7:111003207..111005251-chr7:111008050..111010228,2	K562	blood:
31	chr7:110991909..110993941-chr7:110997470..110999246,2	K562	blood:
32	chr7:110907955..110909675-chr7:110912861..110914751,2	K562	blood:
33	chr7:110904002..110906677-chr7:110908987..110911839,2	K562	blood:
34	chr7:110962126..110964268-chr7:110964422..110967257,2	K562	blood:
35	chr7:110924432..110926999-chr7:110933691..110937635,4	K562	blood:
36	chr7:110989989..110992007-chr7:110993979..110995982,2	K562	blood:
37	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
38	chr7:110985007..110987369-chr7:110994363..110996141,2	K562	blood:
39	chr7:110941905..110944454-chr7:110944620..110946786,2	K562	blood:
40	chr7:110941905..110944454-chr7:110944620..110946786,2	K562	blood:
41	chr7:110978869..110982048-chr7:110982767..110985792,3	K562	blood:
42	chr7:110946494..110948605-chr7:110949688..110952299,2	K562	blood:
43	chr7:110907955..110909675-chr7:110912861..110914751,2	K562	blood:
44	chr7:110983062..110985792-chr7:110987528..110989399,4	K562	blood:
45	chr7:110935982..110938365-chr7:110942817..110944691,2	K562	blood:
46	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
47	chr7:110968689..110972135-chr7:110972915..110976641,3	K562	blood:
48	chr7:110969852..110970371-chr7:111126745..111127278,2	K562	blood:
49	chr7:110904002..110906677-chr7:110908987..110911839,2	K562	blood:
50	chr7:110929795..110932437-chr7:110933207..110936083,3	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: 4396 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:4396 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548779898	chr7:110877997-110877998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115500673	chr7:110878049-110878050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182518220	chr7:110878096-110878097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187510130	chr7:110878137-110878138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191917726	chr7:110878213-110878214	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs377305001	chr7:110878248-110878249	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs549173929	chr7:110878254-110878255	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs370719892	chr7:110878259-110878260	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs534840179	chr7:110878272-110878273	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs184056857	chr7:110878276-110878277	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs571547197	chr7:110878288-110878289	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113708973	chr7:110878303-110878304	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538929094	chr7:110878322-110878323	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568762941	chr7:110878368-110878369	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs148634023	chr7:110878371-110878372	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188659902	chr7:110878386-110878387	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569519539	chr7:110878388-110878389	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs537062028	chr7:110878415-110878416	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs555123267	chr7:110878471-110878472	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573777670	chr7:110878490-110878491	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs111560841	chr7:110878491-110878492	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs553189615	chr7:110878528-110878529	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs577939441	chr7:110878566-110878567	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs561707958	chr7:110878575-110878576	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545294225	chr7:110878576-110878577	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs142131595	chr7:110878595-110878596	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530770248	chr7:110878613-110878614	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543008109	chr7:110878630-110878631	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561169386	chr7:110878671-110878672	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528554623	chr7:110878679-110878680	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74332542	chr7:110878695-110878696	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147762328	chr7:110878717-110878718	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111908477	chr7:110878770-110878771	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550955091	chr7:110878785-110878786	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145609118	chr7:110878789-110878790	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192742037	chr7:110878798-110878799	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541590213	chr7:110878821-110878822	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567306430	chr7:110878857-110878858	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554454126	chr7:110878873-110878874	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76116925	chr7:110878887-110878888	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553124400	chr7:110878926-110878927	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577876202	chr7:110878934-110878935	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115881165	chr7:110878997-110878998	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147747114	chr7:110879000-110879001	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575489280	chr7:110879024-110879025	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376563839	chr7:110879041-110879042	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs37714	chr7:110879070-110879071	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs528492639	chr7:110879072-110879073	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540298039	chr7:110879086-110879087	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77776001	chr7:110879123-110879124	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Autism	20531469	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110871000-110878600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:110871400-110878400	Weak transcription	Adipose Nuclei	Adipose
3	chr7:110873000-110878000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:110873000-110878200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:110873200-110878000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:110873200-110878000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:110873200-110878000	Weak transcription	Osteobl	bone
8	chr7:110873200-110878200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:110873200-110878200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:110873200-110878200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:110873200-110878600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:110873200-110878600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:110873200-110878600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:110873200-110878600	Weak transcription	HUVEC	blood vessel
15	chr7:110873200-110878600	Weak transcription	NHLF	lung
16	chr7:110873200-110879000	Weak transcription	Right Ventricle	heart
17	chr7:110873200-110879600	Weak transcription	K562	blood
18	chr7:110873400-110878600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:110874400-110879200	Weak transcription	A549	lung
20	chr7:110878000-110878200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:110878000-110878600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:110878000-110878800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr7:110878000-110878800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:110878000-110878800	Enhancers	Osteobl	bone
25	chr7:110878000-110879000	Enhancers	Brain Germinal Matrix	brain
26	chr7:110878000-110880000	Enhancers	Fetal Lung	lung
27	chr7:110878200-110878400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:110878200-110878600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:110878200-110878600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:110878200-110879000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:110878200-110879600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr7:110878200-110881000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr7:110878400-110878600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:110878400-110878600	Enhancers	Adipose Nuclei	Adipose
35	chr7:110878400-110878600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr7:110878600-110878800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:110878600-110878800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:110878600-110878800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:110878600-110878800	Enhancers	Colon Smooth Muscle	Colon
40	chr7:110878600-110878800	Flanking Active TSS	NHLF	lung
41	chr7:110878600-110879000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:110878600-110879200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:110878600-110879200	Active TSS	Primary hematopoietic stem cells	blood
44	chr7:110878600-110879200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:110878600-110879200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:110878600-110879400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr7:110878600-110879400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:110878600-110879400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr7:110878600-110879400	Active TSS	Brain Substantia Nigra	brain
50	chr7:110878600-110879400	Active TSS	Duodenum Smooth Muscle	Duodenum

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