Variant report

Variant	rs35888888
Chromosome Location	chr19:53072177-53072178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11879684	1.00[ASN][1000 genomes]
rs11882311	1.00[ASN][1000 genomes]
rs12461522	1.00[ASN][1000 genomes]
rs12462080	1.00[ASN][1000 genomes]
rs12971372	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12977988	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12979584	0.98[EUR][1000 genomes]
rs12985487	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12986137	1.00[ASN][1000 genomes]
rs16983943	1.00[ASN][1000 genomes]
rs2061355	1.00[ASN][1000 genomes]
rs28570374	1.00[ASN][1000 genomes]
rs329948	1.00[ASN][1000 genomes]
rs329949	1.00[ASN][1000 genomes]
rs34066730	0.95[EUR][1000 genomes]
rs34106830	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34203482	1.00[ASN][1000 genomes]
rs34316627	1.00[ASN][1000 genomes]
rs34529833	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34603606	0.95[EUR][1000 genomes]
rs34724169	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34747259	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34866464	0.95[EUR][1000 genomes]
rs34942135	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35068231	0.95[EUR][1000 genomes]
rs35356792	1.00[ASN][1000 genomes]
rs35591322	1.00[ASN][1000 genomes]
rs35895760	1.00[ASN][1000 genomes]
rs35904532	1.00[ASN][1000 genomes]
rs35990292	0.98[EUR][1000 genomes]
rs35993483	0.98[EUR][1000 genomes]
rs36089907	1.00[ASN][1000 genomes]
rs382838	1.00[ASN][1000 genomes]
rs436426	1.00[ASN][1000 genomes]
rs4401146	0.98[EUR][1000 genomes]
rs557496	1.00[ASN][1000 genomes]
rs58067500	1.00[ASN][1000 genomes]
rs58494379	1.00[ASN][1000 genomes]
rs61545816	1.00[ASN][1000 genomes]
rs61746334	0.82[EUR][1000 genomes]
rs71358875	1.00[ASN][1000 genomes]
rs71358876	1.00[ASN][1000 genomes]
rs71358877	1.00[ASN][1000 genomes]
rs71358878	1.00[ASN][1000 genomes]
rs71358879	1.00[ASN][1000 genomes]
rs71358884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252479	1.00[ASN][1000 genomes]
rs7257824	1.00[ASN][1000 genomes]
rs73578236	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73578252	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590059	1.00[ASN][1000 genomes]
rs73934854	1.00[ASN][1000 genomes]
rs8104197	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs811920	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv458743	chr19:53065661-53114267	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv580027	chr19:53065661-53114267	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv912304	chr19:53071155-53114267	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53051600-53073200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr19:53058400-53072600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:53058600-53072800	Weak transcription	Fetal Brain Male	brain
4	chr19:53059200-53073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:53060800-53072800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:53061000-53072600	Weak transcription	Fetal Brain Female	brain
7	chr19:53061000-53072800	Weak transcription	Brain Angular Gyrus	brain
8	chr19:53061200-53072600	Weak transcription	Fetal Heart	heart
9	chr19:53061200-53072800	Weak transcription	Brain Anterior Caudate	brain
10	chr19:53061400-53072600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:53062000-53077800	ZNF genes & repeats	Liver	Liver
12	chr19:53062200-53072800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:53062400-53072800	Weak transcription	Fetal Kidney	kidney
14	chr19:53062400-53073000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr19:53063000-53072800	Weak transcription	Right Ventricle	heart
16	chr19:53063600-53073000	Weak transcription	HUVEC	blood vessel
17	chr19:53064000-53072800	Weak transcription	Brain Germinal Matrix	brain
18	chr19:53064200-53072200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr19:53064200-53073000	Weak transcription	Psoas Muscle	Psoas
20	chr19:53064400-53072400	Weak transcription	Osteobl	bone
21	chr19:53065400-53072800	Weak transcription	Brain Hippocampus Middle	brain
22	chr19:53065400-53073000	Weak transcription	Brain Substantia Nigra	brain
23	chr19:53066400-53072800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:53067400-53072600	Weak transcription	Fetal Lung	lung
25	chr19:53067600-53072600	Weak transcription	Fetal Muscle Leg	muscle
26	chr19:53067600-53072800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr19:53067800-53072800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr19:53067800-53072800	Weak transcription	HSMM	muscle
29	chr19:53068000-53072600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:53068000-53072600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:53068000-53072800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:53068000-53072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr19:53068000-53073000	Weak transcription	Ovary	ovary
34	chr19:53068200-53072600	Weak transcription	Fetal Stomach	stomach
35	chr19:53068200-53072600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:53068600-53072400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr19:53068600-53072800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:53068600-53072800	Weak transcription	Left Ventricle	heart
39	chr19:53068800-53072800	Enhancers	Placenta	Placenta
40	chr19:53069000-53073000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr19:53069200-53073000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:53069400-53072800	Weak transcription	Adipose Nuclei	Adipose
43	chr19:53070000-53072800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr19:53070200-53072600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr19:53070200-53072800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr19:53070200-53072800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr19:53070400-53072600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr19:53070400-53072800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:53070400-53072800	Weak transcription	Primary T cells from cord blood	blood
50	chr19:53070400-53072800	ZNF genes & repeats	Fetal Intestine Small	intestine

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