Variant report

Variant	esv3392342
Chromosome Location	chr1:247305688-247306285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247305865..247308781-chr1:247312082..247316125,4	K562	blood:
2	chr1:247305778..247307279-chr20:47900377..47902023,2	K562	blood:
3	chr1:247303809..247306920-chr1:247310014..247313822,3	MCF-7	breast:
4	chr1:247304460..247307892-chr1:247308798..247311379,4	K562	blood:
5	chr1:247265068..247267248-chr1:247305560..247307197,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196418	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199552734	chr1:247305751-247305752	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs141122515	chr1:247305752-247305753	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368181127	chr1:247305754-247305755	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567647231	chr1:247305827-247305828	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536545740	chr1:247305840-247305841	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs386641821	chr1:247305872-247305873	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12093759	chr1:247305873-247305874	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs575218220	chr1:247305888-247305889	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6687789	chr1:247305993-247305994	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs568607104	chr1:247306009-247306010	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370707022	chr1:247306018-247306019	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538811641	chr1:247306095-247306096	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192393881	chr1:247306101-247306102	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs56080219	chr1:247306144-247306145	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575617151	chr1:247306169-247306170	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73137954	chr1:247306202-247306203	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs67657975	chr1:247306251-247306252	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575744328	chr1:247306256-247306257	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247295200-247307400	Weak transcription	Right Ventricle	heart
2	chr1:247301800-247333000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:247302000-247334200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:247302200-247306000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr1:247302200-247309000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr1:247302400-247313200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:247302400-247313400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr1:247302800-247315200	ZNF genes & repeats	Dnd41	blood
9	chr1:247303000-247313400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:247303000-247315400	ZNF genes & repeats	Liver	Liver
11	chr1:247303200-247313600	ZNF genes & repeats	Fetal Brain Female	brain
12	chr1:247303400-247316600	Weak transcription	Fetal Heart	heart
13	chr1:247303400-247318600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:247303400-247324600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:247303600-247305800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr1:247303600-247306000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
17	chr1:247303600-247324600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr1:247303800-247305800	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr1:247303800-247305800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:247303800-247306000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr1:247303800-247313400	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr1:247304000-247305800	ZNF genes & repeats	A549	lung
23	chr1:247304000-247308000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr1:247304200-247305800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr1:247304200-247306400	Weak transcription	Osteobl	bone
26	chr1:247304200-247308400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:247304200-247324400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:247304400-247306000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:247304400-247306000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:247304400-247308400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:247304800-247308000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
32	chr1:247304800-247309800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:247304800-247313000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:247305000-247305800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr1:247305000-247305800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:247305200-247313000	Weak transcription	HSMMtube	muscle
37	chr1:247305400-247306400	Strong transcription	HSMM	muscle
38	chr1:247305400-247306600	Weak transcription	Pancreas	Pancrea
39	chr1:247305400-247306800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:247305400-247307000	Weak transcription	Stomach Mucosa	stomach
41	chr1:247305400-247308600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:247305400-247320000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:247305600-247306200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr1:247305600-247306400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:247305600-247306600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:247305600-247306600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:247305600-247306600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:247305600-247306600	Weak transcription	Aorta	Aorta
49	chr1:247305600-247306600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:247305600-247306800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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