Variant report

Variant	rs2492503
Chromosome Location	chr1:112935605-112935606
allele	A/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:112934882..112939118-chr1:113160574..113165273,5	K562	blood:
2	chr1:112933540..112936487-chr15:65596201..65598326,2	K562	blood:
3	chr1:112932411..112934354-chr1:112934374..112936000,2	MCF-7	breast:
4	chr1:112935217..112937989-chr1:113105345..113107131,2	K562	blood:
5	chr1:112934847..112940551-chr1:113160058..113165450,12	MCF-7	breast:
6	chr1:112935506..112938750-chr1:113247926..113251541,4	MCF-7	breast:
7	chr1:112934882..112937734-chr1:113160574..113162558,3	K562	blood:
8	chr1:112934468..112938679-chr1:113215370..113218926,7	MCF-7	breast:
9	chr1:112934954..112937732-chr1:113156801..113159593,3	MCF-7	breast:
10	chr1:112930750..112936540-chr1:113240694..113246273,6	MCF-7	breast:
11	chr1:112933576..112940137-chr1:113246857..113251993,14	MCF-7	breast:
12	chr1:112930309..112940640-chr1:113155859..113164847,24	MCF-7	breast:
13	chr1:112934517..112936780-chr1:113213941..113216268,2	MCF-7	breast:
14	chr1:112935548..112944315-chr1:113002393..113010397,28	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155366	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000155363	Chromatin interaction
ENSG00000134245	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11102471	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12080074	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12138024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419041	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1891705	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1891707	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2488762	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2488763	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2488765	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2488766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2488770	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2492501	0.87[ASN][1000 genomes]
rs2492502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2492504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999472	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240532	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7415832	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112934000-112936000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:112934000-112936200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:112934000-112937200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:112934000-112937200	Weak transcription	Liver	Liver
5	chr1:112934000-112937600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:112934000-112938000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:112934000-112938000	Weak transcription	Pancreas	Pancrea
8	chr1:112934000-112938200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:112934200-112936000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:112934200-112936200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:112934200-112936200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:112934200-112936200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:112934200-112936200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:112934200-112936200	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:112934200-112936200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:112934200-112936200	Weak transcription	HSMMtube	muscle
17	chr1:112934200-112936200	Enhancers	Osteobl	bone
18	chr1:112934200-112936400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:112934200-112936400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:112934200-112936600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:112934200-112936600	Weak transcription	Right Atrium	heart
22	chr1:112934200-112936800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:112934200-112936800	Weak transcription	Brain Angular Gyrus	brain
24	chr1:112934200-112937000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:112934200-112937000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:112934200-112937000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:112934200-112937000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:112934200-112937000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:112934200-112937000	Weak transcription	Brain Anterior Caudate	brain
30	chr1:112934200-112937000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:112934200-112937000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:112934200-112937200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:112934200-112937200	Weak transcription	Ovary	ovary
34	chr1:112934200-112937200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:112934200-112937200	Weak transcription	Spleen	Spleen
36	chr1:112934200-112937600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:112934200-112937600	Weak transcription	Brain Germinal Matrix	brain
38	chr1:112934200-112937600	Weak transcription	Esophagus	oesophagus
39	chr1:112934200-112937600	Weak transcription	Right Ventricle	heart
40	chr1:112934200-112938000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:112934200-112938000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:112934200-112938000	Weak transcription	Gastric	stomach
43	chr1:112934200-112938200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:112934400-112936000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:112934400-112936000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:112934400-112936000	Weak transcription	Stomach Mucosa	stomach
47	chr1:112934400-112936000	Weak transcription	HSMM	muscle
48	chr1:112934400-112936200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:112934400-112936200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:112934400-112936200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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