Variant report

Variant	rs234338
Chromosome Location	chr19:40542738-40542739
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10414087	1.00[ASN][1000 genomes]
rs10418532	1.00[ASN][1000 genomes]
rs10421829	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10424773	1.00[ASN][1000 genomes]
rs11881677	1.00[ASN][1000 genomes]
rs11882464	1.00[ASN][1000 genomes]
rs11882490	1.00[ASN][1000 genomes]
rs163212	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973959	1.00[CHB][hapmap]
rs17756648	0.83[ASN][1000 genomes]
rs234321	0.84[ASW][hapmap]
rs234329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.85[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234347	1.00[CHB][hapmap]
rs234348	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs234359	0.84[ASW][hapmap];0.86[LWK][hapmap];0.92[MKK][hapmap]
rs234362	1.00[CHB][hapmap]
rs234363	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs234367	1.00[CHB][hapmap]
rs234369	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.81[AMR][1000 genomes]
rs234373	0.81[AMR][1000 genomes]
rs2531363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2542311	0.92[ASW][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.83[AFR][1000 genomes]
rs28669038	1.00[ASN][1000 genomes]
rs337796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383975	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs399405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517342	1.00[ASN][1000 genomes]
rs520877	1.00[ASN][1000 genomes]
rs526467	1.00[ASN][1000 genomes]
rs532235	1.00[ASN][1000 genomes]
rs563703	1.00[ASN][1000 genomes]
rs589279	1.00[ASN][1000 genomes]
rs589404	1.00[ASN][1000 genomes]
rs60798356	0.87[EUR][1000 genomes]
rs62106576	1.00[ASN][1000 genomes]
rs62106577	1.00[ASN][1000 genomes]
rs62106578	1.00[ASN][1000 genomes]
rs62106580	0.83[ASN][1000 genomes]
rs62106581	0.83[ASN][1000 genomes]
rs62106584	1.00[ASN][1000 genomes]
rs62106585	1.00[ASN][1000 genomes]
rs62106586	1.00[ASN][1000 genomes]
rs62106587	1.00[ASN][1000 genomes]
rs62106588	1.00[ASN][1000 genomes]
rs62106589	1.00[ASN][1000 genomes]
rs62106590	1.00[ASN][1000 genomes]
rs62106591	1.00[ASN][1000 genomes]
rs62106625	1.00[ASN][1000 genomes]
rs62106626	1.00[ASN][1000 genomes]
rs62108934	1.00[ASN][1000 genomes]
rs62110063	1.00[ASN][1000 genomes]
rs623196	1.00[ASN][1000 genomes]
rs636313	1.00[ASN][1000 genomes]
rs649239	1.00[ASN][1000 genomes]
rs6508931	1.00[ASN][1000 genomes]
rs6508932	1.00[ASN][1000 genomes]
rs667850	1.00[ASN][1000 genomes]
rs7250244	1.00[ASN][1000 genomes]
rs7250298	1.00[ASN][1000 genomes]
rs7259136	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7260610	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs73551672	0.83[ASN][1000 genomes]
rs73553618	1.00[ASN][1000 genomes]
rs8103746	1.00[ASN][1000 genomes]
rs8103807	1.00[ASN][1000 genomes]
rs8105260	1.00[ASN][1000 genomes]
rs8108062	1.00[ASN][1000 genomes]
rs8108857	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40528600-40543800	ZNF genes & repeats	Liver	Liver
2	chr19:40529000-40543800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:40529200-40543800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:40529200-40543800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:40530600-40543800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:40535000-40543800	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:40536000-40543800	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:40536400-40543600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:40536600-40543800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:40537400-40543000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr19:40537400-40543000	ZNF genes & repeats	Brain Anterior Caudate	brain
12	chr19:40537400-40543800	ZNF genes & repeats	Brain Hippocampus Middle	brain
13	chr19:40537600-40543400	ZNF genes & repeats	A549	lung
14	chr19:40537600-40543600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr19:40537800-40543200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:40538800-40542800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr19:40538800-40543800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr19:40539000-40543600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
19	chr19:40539200-40543800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:40539400-40543600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:40539400-40543600	ZNF genes & repeats	Fetal Lung	lung
22	chr19:40539600-40543400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
23	chr19:40539600-40543600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:40539600-40543600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:40539600-40543800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr19:40539600-40543800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
27	chr19:40539800-40543800	ZNF genes & repeats	Psoas Muscle	Psoas
28	chr19:40540000-40542800	ZNF genes & repeats	Brain Substantia Nigra	brain
29	chr19:40540400-40543400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
30	chr19:40540400-40543800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr19:40540600-40542800	Weak transcription	Pancreas	Pancrea
32	chr19:40540800-40543600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:40541000-40542800	Strong transcription	Brain Germinal Matrix	brain
34	chr19:40541200-40543600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:40541400-40543600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:40541400-40549200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:40541600-40543000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
38	chr19:40541800-40542800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:40541800-40543000	ZNF genes & repeats	Fetal Brain Male	brain
40	chr19:40542000-40542800	Weak transcription	Left Ventricle	heart
41	chr19:40542000-40549000	Weak transcription	Ovary	ovary
42	chr19:40542200-40549200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:40542200-40549200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:40542200-40549800	Weak transcription	HSMMtube	muscle
45	chr19:40542400-40543200	Weak transcription	Primary B cells from cord blood	blood
46	chr19:40542400-40543400	Weak transcription	Brain Angular Gyrus	brain
47	chr19:40542400-40549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr19:40542400-40549400	Weak transcription	HepG2	liver
49	chr19:40542600-40549800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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