Variant report

Variant	rs73035159
Chromosome Location	chr19:38143541-38143542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38129742..38132534-chr19:38142978..38144992,2	K562	blood:
2	chr19:38136998..38138524-chr19:38142889..38145003,2	MCF-7	breast:
3	chr19:38142585..38144601-chr19:38145165..38147382,2	K562	blood:

Variant related genes	Relation type
ENSG00000120784	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10445548	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1048505	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1061753	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1061756	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12151156	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17244713	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17244769	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17303902	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17304703	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17305193	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17305228	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17305823	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17306900	0.82[ASN][1000 genomes]
rs1871196	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2291001	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2306201	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2385005	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35153242	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55681348	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55718806	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55743020	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55754546	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55865869	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55909413	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56277404	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56351266	0.82[ASN][1000 genomes]
rs57654288	0.99[EUR][1000 genomes]
rs57943942	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62108291	0.84[EUR][1000 genomes]
rs62108306	0.82[EUR][1000 genomes]
rs7245855	0.82[ASN][1000 genomes]
rs7259272	0.82[EUR][1000 genomes]
rs73031330	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73033122	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73033134	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73033142	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73035160	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73039029	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73041006	0.82[ASN][1000 genomes]
rs8101610	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8104282	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8104994	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8108268	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8111790	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs73035159	AC012309.5	cis	Skin Sun Exposed Lower leg	GTEx
rs73035159	AC012309.5	cis	Esophagus Muscularis	GTEx
rs73035159	ZNF781	cis	Thyroid	GTEx
rs73035159	AC012309.5	cis	Esophagus Mucosa	GTEx
rs73035159	AC012309.5	cis	Muscle Skeletal	GTEx
rs73035159	AC012309.5	cis	Heart Left Ventricle	GTEx
rs73035159	AC012309.5	cis	Thyroid	GTEx
rs73035159	AC012309.5	cis	Artery Tibial	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38124800-38144400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:38127200-38144600	Weak transcription	Hela-S3	cervix
3	chr19:38134200-38144600	Weak transcription	NHLF	lung
4	chr19:38134400-38145000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:38134400-38145000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:38135000-38144200	Weak transcription	Fetal Heart	heart
7	chr19:38135800-38144400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:38137200-38144400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:38138400-38145000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:38138600-38144000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr19:38138600-38144600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:38138600-38144600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:38138600-38144800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr19:38138600-38144800	Weak transcription	Right Ventricle	heart
15	chr19:38138800-38144200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:38138800-38144200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr19:38138800-38144600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:38138800-38144600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:38138800-38144600	Weak transcription	Fetal Kidney	kidney
20	chr19:38138800-38144600	Weak transcription	HSMMtube	muscle
21	chr19:38138800-38144600	Weak transcription	K562	blood
22	chr19:38139000-38143800	Weak transcription	Psoas Muscle	Psoas
23	chr19:38139000-38144000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:38139000-38144600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:38139000-38144600	Weak transcription	Stomach Mucosa	stomach
26	chr19:38139000-38144600	Weak transcription	NHEK	skin
27	chr19:38139000-38144800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr19:38139000-38145200	Weak transcription	Placenta	Placenta
29	chr19:38139200-38144000	Weak transcription	HepG2	liver
30	chr19:38139200-38144200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr19:38139200-38144400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:38139200-38144400	Weak transcription	HUVEC	blood vessel
33	chr19:38139200-38144600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:38139200-38144600	Weak transcription	Brain Angular Gyrus	brain
35	chr19:38139200-38144600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr19:38139200-38144600	Weak transcription	Brain Substantia Nigra	brain
37	chr19:38139200-38144600	Weak transcription	Fetal Muscle Leg	muscle
38	chr19:38139200-38144600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:38139200-38144600	Weak transcription	Thymus	Thymus
40	chr19:38139200-38144800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr19:38139200-38144800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr19:38139200-38144800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr19:38139200-38144800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:38139200-38144800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr19:38139200-38144800	Weak transcription	Left Ventricle	heart
46	chr19:38139200-38145400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:38139400-38144600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr19:38139400-38144600	Weak transcription	Brain Hippocampus Middle	brain
49	chr19:38139600-38144000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:38139600-38144000	Weak transcription	Fetal Brain Female	brain

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