Variant report

Variant	rs17492440
Chromosome Location	chr1:227752349-227752350
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:9)
LncRNA
region (count:0)
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	chr1:227745812..227749133-chr1:227750205..227753010,3	K562	blood:
2	chr1:227751314..227753059-chr1:227774179..227776637,2	K562	blood:
3	chr1:227751959..227755569-chr1:227762720..227764448,3	MCF-7	breast:
4	chr1:227746809..227749278-chr1:227751802..227753794,2	K562	blood:
5	chr1:227750211..227752851-chr1:227914757..227917634,3	MCF-7	breast:
6	chr1:227750240..227752795-chr1:227921793..227923560,2	K562	blood:
7	chr1:227751815..227753395-chr1:227758245..227760827,2	K562	blood:
8	chr1:227126771..227129566-chr1:227749760..227753054,3	K562	blood:
9	chr1:227695645..227697944-chr1:227752053..227753592,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202264	Chromatin interaction
ENSG00000081692	Chromatin interaction
ENSG00000143740	Chromatin interaction
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12563117	1.00[EUR][1000 genomes]
rs12563564	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564736	1.00[EUR][1000 genomes]
rs12564917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564929	1.00[EUR][1000 genomes]
rs12565099	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12565618	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565653	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566716	1.00[EUR][1000 genomes]
rs12567084	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567934	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1323021	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13373816	1.00[EUR][1000 genomes]
rs16841323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847912	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847929	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848026	1.00[EUR][1000 genomes]
rs16848044	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16859962	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860227	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2313220	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34984248	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35703429	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462138	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58961542	0.94[ASN][1000 genomes]
rs59461077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665512	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090936	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090937	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090938	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090954	1.00[ASN][1000 genomes]
rs73090985	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090986	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090994	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73091000	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092610	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533013	0.87[ASN][1000 genomes]
rs7546845	0.87[ASN][1000 genomes]
rs7554851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554870	1.00[ASN][1000 genomes]
rs996226	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3338615	chr1:227738421-227798486	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227750600-227752600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:227750800-227752400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:227750800-227752400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:227750800-227752400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:227750800-227752400	Active TSS	Muscle Satellite Cultured Cells	--
6	chr1:227750800-227752400	Active TSS	Brain Germinal Matrix	brain
7	chr1:227750800-227752400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr1:227750800-227752400	Active TSS	HSMM	muscle
9	chr1:227751000-227752400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr1:227751000-227752400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:227751000-227752400	Active TSS	Fetal Muscle Trunk	muscle
12	chr1:227751000-227752400	Active TSS	Fetal Stomach	stomach
13	chr1:227751000-227752400	Active TSS	GM12878-XiMat	blood
14	chr1:227751000-227752600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:227751000-227752600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:227751200-227752400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:227751200-227752400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:227751200-227752400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:227751200-227752400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:227751200-227752400	Active TSS	Placenta Amnion	Placenta Amnion
21	chr1:227751200-227752400	Active TSS	Right Atrium	heart
22	chr1:227751200-227752400	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr1:227751600-227752400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr1:227751600-227752400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr1:227751600-227752400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr1:227751600-227752400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr1:227751600-227752400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr1:227751600-227752600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:227751800-227752400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:227751800-227752400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr1:227751800-227752400	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr1:227751800-227752400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr1:227751800-227752400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr1:227751800-227752400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:227751800-227752400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr1:227751800-227752400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:227751800-227752400	Flanking Active TSS	Fetal Lung	lung
38	chr1:227751800-227752400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr1:227751800-227752400	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr1:227751800-227752400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr1:227751800-227752400	Flanking Active TSS	NH-A	brain
42	chr1:227751800-227752400	Flanking Active TSS	Osteobl	bone
43	chr1:227751800-227752600	Flanking Active TSS	Dnd41	blood
44	chr1:227751800-227756400	Weak transcription	Spleen	Spleen
45	chr1:227752000-227752400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:227752000-227752400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:227752000-227752400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:227752000-227752400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:227752000-227752400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr1:227752000-227752400	Enhancers	Primary monocytes fromperipheralblood	blood

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