Variant report

Variant	rs2265603
Chromosome Location	chr1:45450426-45450427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45443941..45446548-chr1:45450111..45452073,2	K562	blood:
2	chr1:45449901..45454181-chr1:45475970..45480540,16	K562	blood:
3	chr1:45446769..45450642-chr1:45450825..45453643,3	K562	blood:
4	chr1:45427848..45431686-chr1:45448944..45451154,3	K562	blood:
5	chr1:45284059..45286396-chr1:45450000..45452623,4	MCF-7	breast:
6	chr1:45282917..45288387-chr1:45449365..45456835,12	K562	blood:
7	chr1:45239905..45242727-chr1:45449975..45452356,2	K562	blood:

Variant related genes	Relation type
ENSG00000264294	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000225721	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12407290	1.00[YRI][hapmap]
rs196764	1.00[AMR][1000 genomes]
rs2476170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263957	1.00[AMR][1000 genomes]
rs263959	1.00[AMR][1000 genomes]
rs263963	1.00[AMR][1000 genomes]
rs263968	1.00[AMR][1000 genomes]
rs263972	1.00[AMR][1000 genomes]
rs263974	1.00[AMR][1000 genomes]
rs263976	1.00[AMR][1000 genomes]
rs263983	1.00[AMR][1000 genomes]
rs263984	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs263993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs264000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs264001	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs264003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs264012	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs264017	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs264018	1.00[AFR][1000 genomes]
rs2883814	1.00[AFR][1000 genomes]
rs3923304	1.00[YRI][hapmap]
rs410800	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs411976	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs428928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs430057	1.00[AMR][1000 genomes]
rs449870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs474207	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs492515	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs506691	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs536499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547476	1.00[AMR][1000 genomes]
rs577647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs638062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs662660	1.00[AMR][1000 genomes]
rs9429139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	esv2830314	chr1:45430218-45455285	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45414000-45450800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:45414000-45451000	Weak transcription	Spleen	Spleen
3	chr1:45421000-45450800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:45430800-45450800	Weak transcription	Brain Substantia Nigra	brain
5	chr1:45433200-45451000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:45434400-45450800	Weak transcription	Small Intestine	intestine
7	chr1:45436400-45450800	Weak transcription	HMEC	breast
8	chr1:45436600-45450800	Weak transcription	Stomach Mucosa	stomach
9	chr1:45438000-45451000	Weak transcription	A549	lung
10	chr1:45438200-45450800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:45438400-45451000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:45438600-45450800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:45440400-45451400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:45440800-45450800	Weak transcription	Right Ventricle	heart
15	chr1:45441600-45451200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:45442600-45450800	Weak transcription	Fetal Heart	heart
17	chr1:45443200-45451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:45443400-45451000	Weak transcription	Right Atrium	heart
19	chr1:45443600-45450800	Weak transcription	Colonic Mucosa	Colon
20	chr1:45443800-45450800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:45443800-45451200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:45444000-45450800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:45444200-45450800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:45444200-45450800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:45444200-45451000	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:45444200-45451000	Weak transcription	HSMMtube	muscle
27	chr1:45444600-45451000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:45444600-45451200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:45444600-45451200	Weak transcription	Left Ventricle	heart
30	chr1:45444800-45451000	Weak transcription	Pancreas	Pancrea
31	chr1:45444800-45451200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:45445400-45450800	Weak transcription	Gastric	stomach
33	chr1:45445800-45451000	Weak transcription	Fetal Lung	lung
34	chr1:45446000-45451000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:45446000-45451200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:45446200-45450800	Weak transcription	Fetal Intestine Small	intestine
37	chr1:45446600-45450800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:45446600-45450800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:45446600-45450800	Weak transcription	Fetal Brain Male	brain
40	chr1:45446600-45451000	Weak transcription	Primary B cells from cord blood	blood
41	chr1:45446600-45451000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:45446600-45451000	Weak transcription	Thymus	Thymus
43	chr1:45446800-45450800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:45446800-45450800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:45446800-45450800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:45446800-45450800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:45446800-45450800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:45446800-45450800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:45446800-45450800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:45446800-45450800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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