Variant report

Variant	nsv824229
Chromosome Location	chr7:99130194-99130961
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:1)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:99128997..99131650-chr7:99148283..99150695,2	MCF-7	breast:
2	chr7:99128290..99131980-chr7:99159807..99163198,3	K562	blood:
3	chr7:99127768..99130966-chr7:99177146..99180116,3	K562	blood:
4	chr7:99129504..99131307-chr7:99134135..99135711,2	K562	blood:
5	chr7:99118652..99120616-chr7:99129028..99131521,2	K562	blood:
6	chr7:99129008..99131718-chr7:99137131..99141580,3	K562	blood:
7	chr7:99129430..99132256-chr7:99148288..99150632,4	MCF-7	breast:
8	chr7:99091192..99093523-chr7:99128695..99131572,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZKSCAN5	hsa-miR-155-5p	chr7:99130374-99130399

Variant related genes	Relation type
ENSG00000221909	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552133772	chr7:99130239-99130240	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374367288	chr7:99130252-99130253	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150402453	chr7:99130257-99130258	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117858750	chr7:99130258-99130259	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35941369	chr7:99130271-99130272	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187718457	chr7:99130278-99130279	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138235005	chr7:99130279-99130280	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537999457	chr7:99130287-99130288	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550351972	chr7:99130299-99130300	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143921303	chr7:99130326-99130327	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192343504	chr7:99130353-99130354	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114803893	chr7:99130364-99130365	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566304687	chr7:99130374-99130375	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
14	rs541612389	chr7:99130434-99130435	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184883421	chr7:99130487-99130488	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188144766	chr7:99130495-99130496	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377762523	chr7:99130496-99130497	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553302679	chr7:99130512-99130513	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs147263997	chr7:99130560-99130561	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73713503	chr7:99130620-99130621	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs61477482	chr7:99130625-99130626	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192103580	chr7:99130661-99130662	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs202020613	chr7:99130685-99130686	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545680974	chr7:99130697-99130698	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560847044	chr7:99130702-99130703	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs3138	chr7:99130757-99130758	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370820492	chr7:99130811-99130812	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561165503	chr7:99130824-99130825	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531816036	chr7:99130827-99130828	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34670419	chr7:99130834-99130835	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568682081	chr7:99130874-99130875	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs3137	chr7:99130875-99130876	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551215736	chr7:99130887-99130888	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553304550	chr7:99130924-99130925	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149355979	chr7:99130926-99130927	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113338557	chr7:99130937-99130938	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575907419	chr7:99130957-99130958	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99122400-99132800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:99125000-99131400	ZNF genes & repeats	GM12878-XiMat	blood
3	chr7:99125200-99131800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr7:99125400-99131800	ZNF genes & repeats	Liver	Liver
5	chr7:99125600-99131800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:99125600-99131800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr7:99125800-99131600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
8	chr7:99125800-99131800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:99125800-99131800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr7:99125800-99131800	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr7:99125800-99131800	ZNF genes & repeats	Fetal Lung	lung
12	chr7:99125800-99131800	ZNF genes & repeats	Fetal Muscle Leg	muscle
13	chr7:99125800-99132000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:99125800-99132000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:99125800-99132000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
16	chr7:99125800-99133000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:99126000-99131000	ZNF genes & repeats	Fetal Thymus	thymus
18	chr7:99126000-99131200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr7:99126000-99131400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr7:99126000-99131400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr7:99126000-99131600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:99126000-99131600	ZNF genes & repeats	Ovary	ovary
23	chr7:99126000-99131600	ZNF genes & repeats	Thymus	Thymus
24	chr7:99126000-99131800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr7:99126000-99131800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:99126000-99131800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr7:99126000-99131800	ZNF genes & repeats	Placenta	Placenta
28	chr7:99126000-99132000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:99126000-99132000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr7:99126000-99132000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr7:99126000-99132600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:99126000-99132800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:99126000-99132800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:99126000-99133200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:99126000-99133800	ZNF genes & repeats	Fetal Stomach	stomach
36	chr7:99126200-99130200	ZNF genes & repeats	Dnd41	blood
37	chr7:99126200-99130600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
38	chr7:99126200-99131000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr7:99126200-99131400	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr7:99126200-99131800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:99126400-99131000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
42	chr7:99126400-99131200	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr7:99126400-99131800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:99126400-99131800	ZNF genes & repeats	A549	lung
45	chr7:99126600-99131200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
46	chr7:99126800-99131400	ZNF genes & repeats	Fetal Intestine Large	intestine
47	chr7:99127000-99131600	ZNF genes & repeats	Fetal Brain Male	brain
48	chr7:99127400-99131600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:99127400-99131600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
50	chr7:99127600-99131000	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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