Variant report

Variant	rs1764345
Chromosome Location	chr1:225680242-225680243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10799310	0.83[EUR][1000 genomes]
rs12071529	0.86[EUR][1000 genomes]
rs1222434	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1222439	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1336480	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1360958	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1764347	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1771318	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1890999	0.88[EUR][1000 genomes]
rs2035916	0.87[EUR][1000 genomes]
rs3904084	0.90[CEU][hapmap];0.89[JPT][hapmap]
rs4233220	0.83[EUR][1000 genomes]
rs4554690	0.82[EUR][1000 genomes]
rs475794	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs481746	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs499385	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs516323	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs525062	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs526221	0.81[EUR][1000 genomes]
rs544404	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs544430	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs566085	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59363938	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6692054	0.83[EUR][1000 genomes]
rs72750896	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7545317	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs954534	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651009	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv873227	chr1:225656388-225687981	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv8880	chr1:225656408-225687710	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv826842	chr1:225658062-225686586	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv441740	chr1:225659217-225684196	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv433350	chr1:225665284-225686025	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv873228	chr1:225665284-225687981	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
9	esv2756886	chr1:225665694-225703485	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
10	esv2759003	chr1:225665694-225703485	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv873229	chr1:225668031-225685928	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv873230	chr1:225668524-225687981	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv4720	chr1:225673218-225718009	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225663200-225683800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:225663200-225686400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:225663200-225696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:225663400-225686000	Weak transcription	A549	lung
5	chr1:225666000-225696800	Weak transcription	Esophagus	oesophagus
6	chr1:225667400-225684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:225669000-225687800	Weak transcription	Placenta	Placenta
8	chr1:225669800-225696800	Weak transcription	Pancreas	Pancrea
9	chr1:225670600-225684200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:225670800-225680800	Weak transcription	NH-A	brain
11	chr1:225670800-225681000	Weak transcription	HSMM	muscle
12	chr1:225670800-225682200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:225670800-225683800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:225670800-225683800	Weak transcription	HSMMtube	muscle
15	chr1:225670800-225686400	Weak transcription	Ovary	ovary
16	chr1:225670800-225688400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:225671600-225683800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:225671600-225685000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:225672000-225681600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:225672000-225683600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:225672200-225682000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:225672200-225685200	Weak transcription	NHDF-Ad	bronchial
23	chr1:225672200-225696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:225672200-225696800	Weak transcription	Brain Germinal Matrix	brain
25	chr1:225672400-225683800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:225672600-225683000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:225672800-225693800	Weak transcription	Left Ventricle	heart
28	chr1:225673200-225683600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:225673400-225684000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:225673600-225693800	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:225673800-225686400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:225674400-225696800	Weak transcription	Aorta	Aorta
33	chr1:225674800-225683800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:225674800-225693800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:225675200-225687400	Weak transcription	Stomach Mucosa	stomach
36	chr1:225676200-225696400	Weak transcription	Gastric	stomach
37	chr1:225677000-225680800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:225677000-225686600	Weak transcription	Fetal Stomach	stomach
39	chr1:225677200-225681200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:225677200-225682200	Weak transcription	Fetal Lung	lung
41	chr1:225677200-225685000	Weak transcription	Fetal Brain Male	brain
42	chr1:225677200-225686400	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:225677200-225688400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:225677200-225688400	Weak transcription	Brain Anterior Caudate	brain
45	chr1:225677200-225696000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:225677200-225696400	Weak transcription	Brain Angular Gyrus	brain
47	chr1:225677200-225696400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:225677200-225696400	Weak transcription	Brain Substantia Nigra	brain
49	chr1:225677200-225696400	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:225677200-225696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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