Variant report

Variant	rs9944807
Chromosome Location	chr18:44788908-44788909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10502880	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12956009	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12957869	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958943	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12962421	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1355594	0.90[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17723389	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17723754	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17785419	1.00[ASW][hapmap];0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17785603	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1912989	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1980055	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2048523	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2048524	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2684837	0.82[CEU][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28471970	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28628143	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28666933	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34155040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34939493	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4534948	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7242976	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8084241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8092050	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9304344	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9948677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950812	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9952447	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9960932	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9965170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv828226	chr18:44762014-44801196	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1794744	chr18:44774077-44788908	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1797427	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1835264	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1839014	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1819372	chr18:44774673-44799515	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44786400-44789200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr18:44787000-44791000	Bivalent Enhancer	Brain Germinal Matrix	brain
3	chr18:44787200-44790600	Bivalent Enhancer	Fetal Brain Male	brain
4	chr18:44787200-44791000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr18:44787400-44789800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
6	chr18:44787400-44791000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr18:44787600-44789400	Bivalent Enhancer	Brain Anterior Caudate	brain
8	chr18:44788000-44791000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr18:44788200-44789000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:44788200-44789200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:44788200-44789600	Bivalent Enhancer	Brain Substantia Nigra	brain
12	chr18:44788200-44790800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr18:44788600-44789000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
14	chr18:44788600-44789200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr18:44788600-44789200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
16	chr18:44788600-44789400	Bivalent Enhancer	Brain Angular Gyrus	brain
17	chr18:44788600-44789600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr18:44788800-44789000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:44788800-44789000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr18:44788800-44789000	Bivalent Enhancer	Right Ventricle	heart
21	chr18:44788800-44789200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr18:44788800-44789600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
23	chr18:44788800-44789600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
24	chr18:44788800-44789600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
25	chr18:44788800-44789600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
26	chr18:44788800-44789600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr18:44788800-44789800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr18:44788800-44790000	Enhancers	Gastric	stomach
29	chr18:44788800-44790200	Enhancers	Pancreas	Pancrea
30	chr18:44788800-44790400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr18:44788800-44790800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr18:44788800-44790800	Bivalent Enhancer	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links