Variant report

Variant	rs7545283
Chromosome Location	chr1:113546233-113546234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11102547	1.00[EUR][1000 genomes]
rs11102564	1.00[EUR][1000 genomes]
rs11102570	1.00[EUR][1000 genomes]
rs11102572	1.00[EUR][1000 genomes]
rs11102587	1.00[EUR][1000 genomes]
rs12058371	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12061638	1.00[EUR][1000 genomes]
rs12061679	1.00[EUR][1000 genomes]
rs12063125	1.00[EUR][1000 genomes]
rs12063286	1.00[EUR][1000 genomes]
rs12063903	1.00[EUR][1000 genomes]
rs12063907	1.00[EUR][1000 genomes]
rs12066276	1.00[EUR][1000 genomes]
rs12066409	1.00[EUR][1000 genomes]
rs12067551	0.89[AFR][1000 genomes]
rs12068534	1.00[EUR][1000 genomes]
rs12068812	1.00[EUR][1000 genomes]
rs12068820	1.00[EUR][1000 genomes]
rs12068935	1.00[EUR][1000 genomes]
rs12069411	1.00[EUR][1000 genomes]
rs12069981	1.00[EUR][1000 genomes]
rs12075099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075714	1.00[EUR][1000 genomes]
rs12078513	1.00[EUR][1000 genomes]
rs12079268	1.00[EUR][1000 genomes]
rs12079494	1.00[EUR][1000 genomes]
rs12079508	1.00[EUR][1000 genomes]
rs12079574	1.00[EUR][1000 genomes]
rs12084281	1.00[EUR][1000 genomes]
rs12090558	1.00[EUR][1000 genomes]
rs12093541	1.00[EUR][1000 genomes]
rs1216782	1.00[EUR][1000 genomes]
rs1216786	1.00[EUR][1000 genomes]
rs1216787	1.00[EUR][1000 genomes]
rs17030888	1.00[EUR][1000 genomes]
rs6657174	1.00[EUR][1000 genomes]
rs6676854	1.00[EUR][1000 genomes]
rs6680771	1.00[EUR][1000 genomes]
rs6680949	1.00[EUR][1000 genomes]
rs6699036	1.00[EUR][1000 genomes]
rs72990262	1.00[EUR][1000 genomes]
rs72996345	1.00[EUR][1000 genomes]
rs7511828	1.00[EUR][1000 genomes]
rs7513355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518119	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7530614	1.00[EUR][1000 genomes]
rs7537295	1.00[EUR][1000 genomes]
rs7540515	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
11	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
12	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113511200-113546400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:113511200-113558000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:113511200-113558600	Weak transcription	NHDF-Ad	bronchial
4	chr1:113511200-113564000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:113526600-113564200	Weak transcription	Placenta	Placenta
6	chr1:113526800-113558600	Weak transcription	GM12878-XiMat	blood
7	chr1:113528200-113556600	Weak transcription	Small Intestine	intestine
8	chr1:113529000-113554400	Weak transcription	Lung	lung
9	chr1:113533600-113555600	Weak transcription	Fetal Lung	lung
10	chr1:113534400-113548400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:113535600-113549200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:113535600-113552200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:113535600-113557000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:113535800-113550600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:113535800-113564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:113535800-113564000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:113535800-113564200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:113535800-113568800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:113537200-113554800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:113537400-113550400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:113537400-113554200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:113537600-113552800	Weak transcription	Fetal Thymus	thymus
23	chr1:113538600-113558600	Weak transcription	Spleen	Spleen
24	chr1:113539200-113547000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:113539600-113564200	Weak transcription	Brain Germinal Matrix	brain
26	chr1:113541000-113573800	Weak transcription	Right Ventricle	heart
27	chr1:113541400-113550200	Weak transcription	Primary B cells from cord blood	blood
28	chr1:113541400-113553200	Weak transcription	Aorta	Aorta
29	chr1:113541400-113554800	Weak transcription	A549	lung
30	chr1:113541600-113551400	Weak transcription	NH-A	brain
31	chr1:113541600-113555600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:113541600-113564200	Weak transcription	Osteobl	bone
33	chr1:113541800-113550000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:113541800-113552200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:113541800-113552800	Weak transcription	Ovary	ovary
36	chr1:113541800-113554800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:113541800-113554800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:113541800-113564000	Weak transcription	K562	blood
39	chr1:113542000-113546600	Weak transcription	Fetal Intestine Large	intestine
40	chr1:113542000-113546800	Weak transcription	Adipose Nuclei	Adipose
41	chr1:113542000-113546800	Weak transcription	Fetal Intestine Small	intestine
42	chr1:113542000-113549800	Weak transcription	Primary T cells from cord blood	blood
43	chr1:113542000-113550000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:113542000-113550000	Weak transcription	Brain Anterior Caudate	brain
45	chr1:113542000-113551000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:113542000-113552200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:113542000-113552800	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:113542000-113554000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:113542000-113554400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:113542000-113558400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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