Variant report

Variant	nsv5818
Chromosome Location	chr7:83874968-83919804
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:83875965..83878542-chr7:83880011..83883471,3	K562	blood:
2	chr7:83904428..83905120-chr7:84165177..84165677,2	MCF-7	breast:
3	chr7:83875965..83878542-chr7:83880011..83883471,3	K562	blood:
4	chr7:83889341..83890941-chr7:83892038..83894645,2	MCF-7	breast:
5	chr7:83889341..83890941-chr7:83892038..83894645,2	MCF-7	breast:
6	chr7:83855829..83858615-chr7:83880925..83883506,2	K562	blood:
7	chr7:83910288..83912850-chr7:83915502..83917742,2	MCF-7	breast:
8	chr7:83910288..83912850-chr7:83915502..83917742,2	MCF-7	breast:

No data

Extended variants
information (count: 1581 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1581 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536206867	chr7:83874989-83874990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs555001904	chr7:83874991-83874992	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs573417702	chr7:83875032-83875033	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs540717976	chr7:83875042-83875043	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs559224986	chr7:83875085-83875086	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs577331242	chr7:83875101-83875102	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs544896978	chr7:83875155-83875156	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562991568	chr7:83875201-83875202	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs113242908	chr7:83875215-83875216	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185566326	chr7:83875259-83875260	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111942907	chr7:83875260-83875261	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs55980937	chr7:83875273-83875274	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560531008	chr7:83875283-83875284	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528199638	chr7:83875322-83875323	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570789347	chr7:83875370-83875371	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373600757	chr7:83875398-83875399	ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115053091	chr7:83875410-83875411	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532168129	chr7:83875418-83875419	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190077908	chr7:83875517-83875518	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181877434	chr7:83875527-83875528	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77357200	chr7:83875553-83875554	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144033399	chr7:83875557-83875558	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56021068	chr7:83875573-83875574	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559168530	chr7:83875599-83875600	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375068929	chr7:83875615-83875616	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs555563154	chr7:83875616-83875617	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs143371913	chr7:83875648-83875649	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs538099036	chr7:83875662-83875663	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs148378140	chr7:83875707-83875708	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs62477031	chr7:83875711-83875712	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs575065319	chr7:83875718-83875719	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs575928497	chr7:83875729-83875730	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs62477032	chr7:83875746-83875747	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537919453	chr7:83875786-83875787	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs186525840	chr7:83875876-83875877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76112136	chr7:83875983-83875984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539950574	chr7:83876042-83876043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564782576	chr7:83876062-83876063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557484791	chr7:83876086-83876087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114603368	chr7:83876096-83876097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373484572	chr7:83876203-83876204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550545372	chr7:83876233-83876234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369494968	chr7:83876272-83876273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562690693	chr7:83876323-83876324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11971807	chr7:83876405-83876406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548478535	chr7:83876418-83876419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566879454	chr7:83876424-83876425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115560297	chr7:83876482-83876483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111255078	chr7:83876526-83876527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570894685	chr7:83876664-83876665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83868200-83876600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:83868400-83875000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:83874000-83875400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:83874800-83875600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
5	chr7:83875000-83875200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr7:83875000-83875400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:83875000-83875400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:83875000-83875400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr7:83875200-83875600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:83875200-83875800	ZNF genes & repeats	NHDF-Ad	bronchial
11	chr7:83875200-83879600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:83875400-83875800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:83875400-83877000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:83875400-83878000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr7:83875400-83880600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:83875600-83875800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:83875600-83876800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr7:83875600-83877000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:83875800-83893800	Weak transcription	NHDF-Ad	bronchial
20	chr7:83876600-83877000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:83876800-83877000	Enhancers	NH-A	brain
22	chr7:83876800-83877800	Enhancers	NHEK	skin
23	chr7:83876800-83878400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:83876800-83881000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr7:83877000-83877400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:83877000-83878400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:83877000-83878400	Enhancers	Rectal Smooth Muscle	rectum
28	chr7:83877000-83879600	Weak transcription	NH-A	brain
29	chr7:83877000-83880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:83877200-83879200	Enhancers	Primary B cells from cord blood	blood
31	chr7:83877400-83877800	Enhancers	NHLF	lung
32	chr7:83877400-83878600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:83877400-83880200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr7:83877400-83880800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:83877600-83877800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:83877600-83878600	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:83877800-83878400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:83877800-83878400	Enhancers	Fetal Lung	lung
39	chr7:83877800-83878600	Enhancers	GM12878-XiMat	blood
40	chr7:83877800-83878800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:83877800-83879200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:83877800-83880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:83877800-83880600	Weak transcription	NHLF	lung
44	chr7:83878000-83878400	Enhancers	Fetal Muscle Leg	muscle
45	chr7:83878000-83878600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr7:83878200-83878400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:83878200-83878400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:83878200-83878400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:83878200-83878600	Enhancers	Colon Smooth Muscle	Colon
50	chr7:83878400-83879800	Weak transcription	Fetal Muscle Leg	muscle

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