Variant report

Variant	rs3786536
Chromosome Location	chr19:42372457-42372458
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42370513..42373649-chr19:42375625..42377894,4	MCF-7	breast:
2	chr19:42354940..42358615-chr19:42368975..42372693,4	K562	blood:
3	chr19:42371817..42374747-chr19:42545510..42548368,2	K562	blood:
4	chr19:42369015..42372839-chr19:42460520..42463128,4	K562	blood:
5	chr19:42356783..42358615-chr19:42370430..42372693,2	K562	blood:
6	chr19:42371951..42373649-chr19:42373763..42375308,2	MCF-7	breast:
7	chr19:42369679..42372709-chr19:42429800..42433926,4	K562	blood:
8	chr19:42311919..42314958-chr19:42372358..42376038,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105737	Chromatin interaction
ENSG00000105404	Chromatin interaction
ENSG00000170956	Chromatin interaction
ENSG00000076928	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10404939	1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs10405900	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10408367	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs10414356	0.82[ASN][1000 genomes]
rs10414823	0.96[CHB][hapmap]
rs10415452	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10416824	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs10417985	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10500284	1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs12461099	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12461131	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12976571	1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs12979253	0.95[CHB][hapmap]
rs12984383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1366610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1428922	0.82[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1457144	1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1870092	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs1870093	0.81[ASN][1000 genomes]
rs2008798	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2075749	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2075750	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2075752	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2075754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2199829	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2290695	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2305809	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs3786538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3810153	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs3922888	1.00[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs4130852	0.82[ASN][1000 genomes]
rs4803511	1.00[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs4803512	0.95[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs58857981	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6509001	0.84[ASN][1000 genomes]
rs6509002	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs7248641	0.81[ASN][1000 genomes]
rs7250787	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7251336	0.82[CHB][hapmap]
rs7251960	0.82[CHB][hapmap]
rs7254214	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7257666	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7258163	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7259596	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7259967	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs734107	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs73549152	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8102670	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8104958	1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs8106505	0.96[CHB][hapmap]
rs8113283	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs8113641	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs8113780	0.81[ASN][1000 genomes]
rs873282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs882520	0.82[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs891167	0.81[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes]
rs899662	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs930102	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv1061878	chr19:42325490-42416056	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv911776	chr19:42343526-42416056	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv911778	chr19:42358362-42416056	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv932623	chr19:42370540-42378620	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3786536	RPS19	cis	Esophagus Muscularis	GTEx
rs3786536	RABAC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42365400-42374800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:42365400-42375000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:42365400-42376200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:42365400-42376600	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr19:42365600-42374600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr19:42365600-42374800	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr19:42365800-42374600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:42365800-42374800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr19:42365800-42375000	Genic enhancers	Fetal Intestine Small	intestine
10	chr19:42366000-42374800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr19:42366000-42376000	Strong transcription	HSMMtube	muscle
12	chr19:42366400-42377600	Strong transcription	Fetal Brain Female	brain
13	chr19:42366600-42374400	Strong transcription	Thymus	Thymus
14	chr19:42366600-42375000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:42366800-42374800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:42367000-42373800	Weak transcription	Right Atrium	heart
17	chr19:42367000-42376600	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr19:42367000-42376800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:42367200-42377200	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr19:42367400-42372600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr19:42367400-42375600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:42367600-42374800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:42367600-42374800	Genic enhancers	HepG2	liver
24	chr19:42367600-42375200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr19:42367600-42375600	Strong transcription	Right Ventricle	heart
26	chr19:42367600-42376200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:42367600-42379200	Weak transcription	Fetal Brain Male	brain
28	chr19:42367800-42373400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:42367800-42374400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr19:42367800-42374800	Strong transcription	Brain Anterior Caudate	brain
31	chr19:42367800-42375800	Strong transcription	Left Ventricle	heart
32	chr19:42367800-42376200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:42368400-42376600	Strong transcription	Brain Cingulate Gyrus	brain
34	chr19:42368600-42376200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:42368800-42372600	Strong transcription	Spleen	Spleen
36	chr19:42368800-42373800	Strong transcription	Osteobl	bone
37	chr19:42368800-42374400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:42368800-42374400	Genic enhancers	Dnd41	blood
39	chr19:42368800-42376200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:42368800-42376200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:42368800-42377000	Strong transcription	Fetal Stomach	stomach
42	chr19:42368800-42377400	Strong transcription	Brain Germinal Matrix	brain
43	chr19:42369000-42373200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr19:42369000-42373200	Strong transcription	NHLF	lung
45	chr19:42369000-42373600	Weak transcription	Psoas Muscle	Psoas
46	chr19:42369000-42376800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:42369000-42376800	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr19:42369200-42376200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr19:42369200-42377200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:42369400-42376600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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