Variant report

Variant	rs57263353
Chromosome Location	chr1:150584462-150584463
allele	C/G
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:1)
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	chr1:150550613..150553020-chr1:150582726..150586821,4	MCF-7	breast:
2	chr1:150538995..150557554-chr1:150581886..150604495,126	K562	blood:
3	chr1:150583951..150586668-chr1:150586711..150588335,2	K562	blood:
4	chr1:150550493..150552164-chr1:150583866..150586279,2	MCF-7	breast:
5	chr1:150544693..150547632-chr1:150583989..150587707,3	MCF-7	breast:
6	chr1:150584201..150586681-chr1:150587631..150590116,2	MCF-7	breast:
7	chr1:150575672..150578383-chr1:150583826..150586849,3	MCF-7	breast:
8	chr1:150532483..150534415-chr1:150583903..150587502,3	K562	blood:
9	chr1:150544073..150554289-chr1:150582699..150598712,61	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GOLPH3L-1	chr1:150583859-150585487	ENSG00000246674

No data

Variant related genes	Relation type
ENSG00000264584	Chromatin interaction
ENSG00000264508	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143384	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11204667	0.81[ASN][1000 genomes]
rs3768012	1.00[AFR][1000 genomes]
rs3795702	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3806389	1.00[AFR][1000 genomes]
rs4970925	1.00[AFR][1000 genomes]
rs4970927	1.00[AFR][1000 genomes]
rs4970947	1.00[AFR][1000 genomes]
rs4970983	1.00[AFR][1000 genomes]
rs55975034	0.81[ASN][1000 genomes]
rs58537074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58550476	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58585637	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150553200-150592000	Weak transcription	Fetal Kidney	kidney
2	chr1:150573400-150587800	Weak transcription	Brain Germinal Matrix	brain
3	chr1:150576200-150591000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:150577000-150588400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:150577400-150585800	Weak transcription	Aorta	Aorta
6	chr1:150577400-150587800	Weak transcription	Esophagus	oesophagus
7	chr1:150577600-150584600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:150578000-150592600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:150581600-150584800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:150581600-150585800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:150581600-150587000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:150581800-150584600	Enhancers	Rectal Smooth Muscle	rectum
13	chr1:150581800-150584800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:150581800-150585600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:150581800-150585600	Genic enhancers	Fetal Muscle Leg	muscle
16	chr1:150581800-150586000	Enhancers	Brain Hippocampus Middle	brain
17	chr1:150582000-150585400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:150582000-150585800	Enhancers	Adipose Nuclei	Adipose
19	chr1:150582200-150584600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:150582200-150584600	Enhancers	Brain Anterior Caudate	brain
21	chr1:150582200-150584800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:150582200-150586800	Enhancers	Left Ventricle	heart
23	chr1:150582200-150587800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:150582200-150588800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:150582400-150585800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:150582400-150588800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:150582400-150594400	Weak transcription	Ovary	ovary
28	chr1:150582600-150584600	Weak transcription	Right Atrium	heart
29	chr1:150582600-150591800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:150582800-150587800	Weak transcription	Fetal Brain Male	brain
31	chr1:150583000-150585800	Genic enhancers	HMEC	breast
32	chr1:150583000-150586400	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr1:150583000-150587000	Enhancers	Primary B cells from peripheral blood	blood
34	chr1:150583000-150587600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:150583000-150588000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr1:150583200-150584800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr1:150583200-150584800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:150583200-150584800	Enhancers	Colon Smooth Muscle	Colon
39	chr1:150583200-150584800	Flanking Active TSS	Hela-S3	cervix
40	chr1:150583200-150585800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:150583200-150585800	Enhancers	NH-A	brain
42	chr1:150583200-150585800	Enhancers	NHLF	lung
43	chr1:150583200-150586000	Genic enhancers	Fetal Thymus	thymus
44	chr1:150583200-150586800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr1:150583200-150586800	Enhancers	Pancreas	Pancrea
46	chr1:150583200-150588000	Genic enhancers	Fetal Intestine Small	intestine
47	chr1:150583200-150589000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr1:150583400-150585000	Enhancers	Stomach Mucosa	stomach
49	chr1:150583400-150585800	Enhancers	HUVEC	blood vessel
50	chr1:150583400-150588200	Enhancers	Sigmoid Colon	Sigmoid Colon

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