Variant report

Variant	esv3505467
Chromosome Location	chr1:247254325-247255089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247252127..247257268-chr1:247258904..247262111,5	MCF-7	breast:
2	chr1:247248390..247250817-chr1:247252718..247255600,2	MCF-7	breast:
3	chr1:247253924..247257124-chr1:247257562..247261761,7	K562	blood:

Variant related genes	Relation type
ENSG00000228982	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190718244	chr1:247254325-247254326	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546404675	chr1:247254345-247254346	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541639992	chr1:247254348-247254349	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566302785	chr1:247254411-247254412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559793810	chr1:247254442-247254443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538351112	chr1:247254454-247254455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192873832	chr1:247254499-247254500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185401915	chr1:247254507-247254508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369065770	chr1:247254533-247254534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs3892516	chr1:247254534-247254535	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs3892246	chr1:247254538-247254539	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs111750330	chr1:247254551-247254552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188665221	chr1:247254554-247254555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181410256	chr1:247254560-247254561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184218262	chr1:247254561-247254562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188109468	chr1:247254562-247254563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545556367	chr1:247254563-247254564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565374904	chr1:247254564-247254565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530836600	chr1:247254571-247254572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550936039	chr1:247254574-247254575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561091755	chr1:247254669-247254670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76598937	chr1:247254714-247254715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375300590	chr1:247254717-247254718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201419879	chr1:247254721-247254722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4076459	chr1:247254722-247254723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4076460	chr1:247254726-247254727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4076461	chr1:247254728-247254729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs59063560	chr1:247254730-247254731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9660151	chr1:247254736-247254737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112399518	chr1:247254752-247254753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs4074509	chr1:247254756-247254757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs74163729	chr1:247254757-247254758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs4074510	chr1:247254758-247254759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs28735561	chr1:247254767-247254768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9700843	chr1:247254779-247254780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs4074511	chr1:247254806-247254807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74210558	chr1:247254808-247254809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7416856	chr1:247254812-247254813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs28524059	chr1:247254814-247254815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs9699549	chr1:247254818-247254819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569813780	chr1:247254848-247254849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113456884	chr1:247254852-247254853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530023470	chr1:247254878-247254879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs180995540	chr1:247254881-247254882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566339212	chr1:247254883-247254884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538439001	chr1:247254904-247254905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551900562	chr1:247254905-247254906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568915442	chr1:247254906-247254907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537479553	chr1:247254907-247254908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs554568673	chr1:247254920-247254921	Weak 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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247251000-247257200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:247252200-247258600	Weak transcription	Brain Germinal Matrix	brain
3	chr1:247252400-247257400	Weak transcription	Fetal Brain Female	brain
4	chr1:247252600-247254400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:247253200-247260400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:247253200-247263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:247253400-247260600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:247253600-247254400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:247253600-247260000	Weak transcription	Right Ventricle	heart
10	chr1:247253600-247260200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:247253600-247263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:247254000-247262800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:247254000-247263600	Weak transcription	Placenta	Placenta
14	chr1:247254200-247254400	Enhancers	HepG2	liver
15	chr1:247254200-247259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:247254200-247260200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:247254200-247260200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:247254200-247262000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:247254200-247266600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:247254400-247260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:247254400-247260600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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