Variant report

Variant	rs3829671
Chromosome Location	chr19:18777667-18777668
allele	C/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	chr19:18769172..18772928-chr19:18776666..18781148,5	K562	blood:
2	chr19:18767525..18769541-chr19:18775184..18777736,2	K562	blood:
3	chr19:18767525..18769068-chr19:18774852..18777736,2	K562	blood:
4	chr19:18777019..18779428-chr19:18809740..18812402,2	K562	blood:
5	chr19:18777346..18780896-chr19:18782148..18785214,5	K562	blood:
6	chr19:18746574..18749470-chr19:18776630..18779130,2	K562	blood:
7	chr19:18771428..18776633-chr19:18776726..18782954,6	K562	blood:
8	chr19:18704889..18707637-chr19:18775924..18777784,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167487	Chromatin interaction
ENSG00000006016	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10221489	0.82[CHB][hapmap]
rs10412053	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10412858	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10419226	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10420228	0.91[ASN][1000 genomes]
rs10421503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423674	0.85[CHB][hapmap]
rs10424265	0.82[ASN][1000 genomes]
rs10854003	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11085236	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11883401	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12976113	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1473116	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1991017	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs2214524	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385178	0.90[ASN][1000 genomes]
rs2891698	0.82[ASN][1000 genomes]
rs3764627	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4808145	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808147	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6510995	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6510996	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7246437	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257812	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs757347	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs757350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8100824	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8102046	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs876982	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886443	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs889364	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' 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
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	esv1849639	chr19:18747006-18780799	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv1811733	chr19:18764320-18780799	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv1845237	chr19:18764320-18780799	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18749200-18778400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:18756400-18778400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr19:18759800-18778400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:18760400-18794800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:18760800-18778400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:18763000-18778400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:18767400-18778400	Weak transcription	Aorta	Aorta
8	chr19:18768200-18778600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:18768600-18778400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr19:18768600-18778400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr19:18769000-18778400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:18769800-18781000	Weak transcription	Small Intestine	intestine
13	chr19:18770200-18778800	Weak transcription	Fetal Lung	lung
14	chr19:18770400-18778400	Weak transcription	Brain Substantia Nigra	brain
15	chr19:18770400-18793600	Weak transcription	GM12878-XiMat	blood
16	chr19:18770800-18783200	Weak transcription	Stomach Mucosa	stomach
17	chr19:18771600-18783400	Weak transcription	HUVEC	blood vessel
18	chr19:18771800-18788200	Weak transcription	K562	blood
19	chr19:18772000-18778200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:18772000-18778200	Weak transcription	Colonic Mucosa	Colon
21	chr19:18772000-18778600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:18772400-18778200	Weak transcription	NHLF	lung
23	chr19:18772600-18778400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:18773200-18788000	Weak transcription	NHEK	skin
25	chr19:18773400-18778000	Genic enhancers	Fetal Stomach	stomach
26	chr19:18773800-18778400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr19:18774200-18778400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:18774200-18783400	Weak transcription	A549	lung
29	chr19:18774400-18778400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:18774400-18784000	Strong transcription	Fetal Intestine Small	intestine
31	chr19:18774600-18778400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:18774600-18778400	Weak transcription	Osteobl	bone
33	chr19:18774600-18778600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:18774600-18779200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:18774600-18783800	Weak transcription	HepG2	liver
36	chr19:18774600-18787400	Weak transcription	Hela-S3	cervix
37	chr19:18774800-18778400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr19:18774800-18783000	Weak transcription	HSMM	muscle
39	chr19:18774800-18788000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:18775000-18778400	Strong transcription	Lung	lung
41	chr19:18775000-18779000	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:18775000-18780600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr19:18775000-18781000	Strong transcription	Gastric	stomach
44	chr19:18775000-18781400	Strong transcription	Brain Cingulate Gyrus	brain
45	chr19:18775000-18781400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr19:18775000-18783000	Strong transcription	Brain Germinal Matrix	brain
47	chr19:18775000-18783200	Strong transcription	Fetal Brain Female	brain
48	chr19:18775200-18778400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr19:18775200-18778600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:18775200-18778600	Weak transcription	Muscle Satellite Cultured Cells	--

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