Variant report

Variant	nsv945438
Chromosome Location	chr1:247320827-247323661
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247320315..247323236-chr1:247326105..247328413,3	K562	blood:
2	chr1:247313509..247316825-chr1:247321741..247324519,3	MCF-7	breast:
3	chr1:247323516..247325758-chr1:247334255..247337594,3	K562	blood:
4	chr1:247265787..247267676-chr1:247322422..247325392,2	MCF-7	breast:
5	chr1:247303971..247305642-chr1:247323338..247325925,2	K562	blood:
6	chr1:247317106..247320597-chr1:247321914..247325025,4	K562	blood:
7	chr1:247312926..247314951-chr1:247323061..247325492,2	K562	blood:
8	chr1:247313944..247315483-chr1:247320044..247321631,2	MCF-7	breast:
9	chr1:247312926..247315544-chr1:247323490..247325492,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188295	chromatin interactions
ENSG00000196418	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193173930	chr1:247320848-247320849	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542093330	chr1:247320857-247320858	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11806327	chr1:247320868-247320869	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs1059347	chr1:247320989-247320990	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116536712	chr1:247321021-247321022	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535658714	chr1:247321154-247321155	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115260494	chr1:247321221-247321222	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554540796	chr1:247321229-247321230	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539961802	chr1:247321237-247321238	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577603272	chr1:247321246-247321247	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59505413	chr1:247321253-247321254	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145316509	chr1:247321289-247321290	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556801808	chr1:247321330-247321331	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147636529	chr1:247321346-247321347	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542326827	chr1:247321376-247321377	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7414815	chr1:247321406-247321407	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149092552	chr1:247321423-247321424	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143142375	chr1:247321429-247321430	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184014437	chr1:247321476-247321477	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148237098	chr1:247321484-247321485	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140995138	chr1:247321520-247321521	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202161161	chr1:247321551-247321552	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200196025	chr1:247321552-247321553	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528639460	chr1:247321556-247321557	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375631083	chr1:247321570-247321571	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533051685	chr1:247321578-247321579	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549618158	chr1:247321588-247321589	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563506362	chr1:247321629-247321630	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145029262	chr1:247321637-247321638	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549082271	chr1:247321659-247321660	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558405573	chr1:247321665-247321666	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549311467	chr1:247321768-247321769	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534646482	chr1:247321779-247321780	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138835202	chr1:247321811-247321812	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188822554	chr1:247321822-247321823	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76254105	chr1:247321823-247321824	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556547427	chr1:247321901-247321902	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200567966	chr1:247321932-247321933	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376740340	chr1:247321933-247321934	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201832465	chr1:247321945-247321946	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555862176	chr1:247321946-247321947	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141940249	chr1:247321948-247321949	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541071215	chr1:247321949-247321950	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564143288	chr1:247321953-247321954	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180793388	chr1:247321967-247321968	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543327751	chr1:247321980-247321981	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563407444	chr1:247321991-247321992	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529122531	chr1:247322000-247322001	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12141126	chr1:247322001-247322002	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs146401773	chr1:247322010-247322011	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247301800-247333000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:247302000-247334200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:247303400-247324600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:247303600-247324600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr1:247304200-247324400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:247306600-247324000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr1:247306600-247324200	ZNF genes & repeats	GM12878-XiMat	blood
8	chr1:247309800-247324000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr1:247309800-247329000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:247310200-247324400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr1:247310800-247323200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
12	chr1:247311000-247323800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
13	chr1:247312800-247324600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr1:247314200-247331000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr1:247314400-247323800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr1:247314800-247323800	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr1:247314800-247324200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:247315000-247325800	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr1:247315200-247323200	ZNF genes & repeats	Fetal Brain Female	brain
20	chr1:247315200-247325800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr1:247315800-247323200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr1:247315800-247324800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
23	chr1:247315800-247325600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:247316000-247323200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:247316000-247323200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr1:247316200-247323200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
27	chr1:247316400-247322800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:247316400-247323200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:247316400-247323800	ZNF genes & repeats	A549	lung
30	chr1:247316400-247324000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr1:247316400-247324000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:247316400-247324600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:247316400-247325600	ZNF genes & repeats	Liver	Liver
34	chr1:247316400-247325800	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr1:247316400-247325800	ZNF genes & repeats	Dnd41	blood
36	chr1:247316600-247321000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
37	chr1:247316600-247321200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
38	chr1:247316600-247323000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chr1:247316600-247323200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr1:247316600-247323400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
41	chr1:247316600-247323800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
42	chr1:247316600-247324600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
43	chr1:247316600-247325600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr1:247316800-247323200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr1:247317000-247325600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
46	chr1:247318800-247321200	ZNF genes & repeats	NHDF-Ad	bronchial
47	chr1:247318800-247322200	ZNF genes & repeats	Placenta	Placenta
48	chr1:247318800-247323200	ZNF genes & repeats	Fetal Lung	lung
49	chr1:247318800-247323600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
50	chr1:247319200-247321200	Strong transcription	Fetal Thymus	thymus

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