Variant report

Variant	esv3430483
Chromosome Location	chr1:247362905-247363116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:247361273..247363730-chr1:247370221..247373518,3	K562	blood:

Variant related genes	Relation type
ENSG00000227671	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201213130	chr1:247362935-247362936	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146715702	chr1:247362972-247362973	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567460539	chr1:247362974-247362975	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76655660	chr1:247362979-247362980	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs55768801	chr1:247362990-247362991	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs556138073	chr1:247362998-247362999	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545743850	chr1:247363017-247363018	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12130823	chr1:247363038-247363039	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184092093	chr1:247363041-247363042	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs72770366	chr1:247363061-247363062	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572573203	chr1:247363075-247363076	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542867510	chr1:247363102-247363103	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561586028	chr1:247363106-247363107	Weak transcription Strong transcription ZNF genes & repeats	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247346000-247370200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:247346000-247371800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr1:247351800-247372400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr1:247352000-247368200	ZNF genes & repeats	Liver	Liver
5	chr1:247353000-247367200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:247353000-247368000	ZNF genes & repeats	Primary B cells from cord blood	blood
7	chr1:247353000-247370400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:247353400-247372000	ZNF genes & repeats	GM12878-XiMat	blood
9	chr1:247354000-247371000	Weak transcription	Brain Angular Gyrus	brain
10	chr1:247354800-247371200	Weak transcription	Stomach Mucosa	stomach
11	chr1:247354800-247372400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:247354800-247372400	Weak transcription	Right Ventricle	heart
13	chr1:247356000-247363400	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr1:247356000-247367200	Weak transcription	Brain Substantia Nigra	brain
15	chr1:247356000-247367800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:247356000-247372400	Weak transcription	Brain Anterior Caudate	brain
17	chr1:247356000-247372400	Weak transcription	Fetal Brain Male	brain
18	chr1:247356000-247372600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:247356000-247372600	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:247356200-247372400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:247356200-247372400	Weak transcription	Colonic Mucosa	Colon
22	chr1:247356400-247364600	Weak transcription	Aorta	Aorta
23	chr1:247356400-247372400	Weak transcription	Gastric	stomach
24	chr1:247356600-247364400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:247356600-247367800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:247357000-247367400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:247357200-247364000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:247357200-247367000	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:247357200-247370800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr1:247357600-247363800	Strong transcription	HUVEC	blood vessel
31	chr1:247357600-247366200	Strong transcription	Adipose Nuclei	Adipose
32	chr1:247357600-247367800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:247357800-247363800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:247357800-247365400	Weak transcription	Brain Germinal Matrix	brain
35	chr1:247357800-247366400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:247358000-247363600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr1:247358000-247368000	Strong transcription	Fetal Thymus	thymus
38	chr1:247358200-247363400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:247358200-247363600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:247358200-247363800	Strong transcription	Thymus	Thymus
41	chr1:247358200-247364200	Strong transcription	Left Ventricle	heart
42	chr1:247358400-247372400	Weak transcription	Fetal Heart	heart
43	chr1:247358600-247363600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:247358600-247363800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:247358800-247363600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:247358800-247363600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr1:247358800-247363600	Strong transcription	Placenta	Placenta
48	chr1:247359000-247363800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:247359000-247364000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:247359000-247364400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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