Variant report

Variant	esv1371687
Chromosome Location	chr1:247453875-247453915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr1:247453874-247454122	K562	blood:	n/a	chr1:247453986-247453999
2	POLR2A	chr1:247453772-247453880	A549	lung:	n/a	n/a
3	SPI1	chr1:247453878-247454041	K562	blood:	n/a	n/a
4	ZBTB33	chr1:247453576-247453963	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247450622..247452470-chr1:247452673..247454513,2	MCF-7	breast:
2	chr1:247444095..247447712-chr1:247449743..247453881,5	K562	blood:
3	chr1:247453254..247455199-chr1:247471424..247473793,2	K562	blood:
4	chr1:247452284..247453974-chr1:247456330..247458629,2	K562	blood:
5	chr1:247450966..247454008-chr1:247495973..247498678,3	K562	blood:
6	chr1:247453061..247455721-chr1:247491943..247494376,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202079	TF binding region
ENSG00000162714	chromatin interactions
ENSG00000202079	chromatin interactions

Extended variants
information (count: 6 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566572973	chr1:247453879-247453880	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs1778546	chr1:247453895-247453896	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs549187103	chr1:247453909-247453910	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs368161965	chr1:247453913-247453914	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567510966	chr1:247453914-247453915	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs544739048	chr1:247453915-247453916	Weak transcription	TF binding region Chromatin interactive region	2 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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247436800-247457000	Weak transcription	HSMMtube	muscle
2	chr1:247445600-247455400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:247449200-247462000	Weak transcription	Primary T cells from cord blood	blood
4	chr1:247449400-247460800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:247449600-247462400	Weak transcription	Brain Angular Gyrus	brain
6	chr1:247450400-247455200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:247450600-247454400	Weak transcription	Thymus	Thymus
8	chr1:247451000-247460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:247451600-247460400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:247452400-247455600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:247452400-247460800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:247452600-247454200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:247452600-247460800	Weak transcription	Brain Germinal Matrix	brain
14	chr1:247452600-247461200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:247452800-247454800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:247452800-247455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:247452800-247455200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:247452800-247455400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:247452800-247455600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:247452800-247462000	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:247453000-247454600	Weak transcription	K562	blood
22	chr1:247453000-247454800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:247453000-247455000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:247453000-247455200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:247453000-247456200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:247453000-247460800	Weak transcription	Fetal Brain Female	brain
27	chr1:247453000-247462000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:247453200-247460400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:247453400-247455000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:247453400-247462000	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:247453400-247463000	Weak transcription	Brain Substantia Nigra	brain

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