Variant report

Variant	rs8105002
Chromosome Location	chr19:21919934-21919935
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10405075	0.84[AFR][1000 genomes]
rs10412225	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10421113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10421342	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10423041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11085492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11879157	0.91[CHB][hapmap]
rs12461775	0.82[CHB][hapmap]
rs3795247	0.91[CHB][hapmap]
rs4319879	0.81[AFR][1000 genomes]
rs4547465	0.84[AFR][1000 genomes]
rs4613201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4808295	0.97[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4808297	0.82[CHB][hapmap]
rs4809175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7252777	0.91[CHB][hapmap]
rs7258859	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs8111464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8113652	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv458525	chr19:21796943-22019697	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv578969	chr19:21796943-22019697	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
7	esv3392559	chr19:21798396-21965956	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv833783	chr19:21821406-21991838	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv1815274	chr19:21825750-21981855	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv911425	chr19:21841379-22338142	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv911426	chr19:21892040-21973929	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv911427	chr19:21900898-21960407	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv833784	chr19:21902647-22037153	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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
15	nsv578970	chr19:21906655-21973929	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv961193	chr19:21911308-21950500	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv3342879	chr19:21913482-21968857	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8105002	VN1R84P	cis	Nerve Tibial	GTEx
rs8105002	ZNF100	cis	Thyroid	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21905600-21947200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:21906200-21927600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:21906200-21949200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:21908000-21920400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:21908200-21920400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:21908800-21948800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:21909200-21946000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:21910800-21920800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:21910800-21922000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr19:21911200-21924600	Weak transcription	Osteobl	bone
11	chr19:21911200-21935600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:21911400-21922000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr19:21911400-21930000	Weak transcription	Right Ventricle	heart
14	chr19:21912800-21922800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
15	chr19:21913000-21920600	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr19:21913000-21925000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:21913000-21925400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr19:21913400-21925600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:21913400-21941200	Weak transcription	NHDF-Ad	bronchial
20	chr19:21914000-21922400	Weak transcription	HSMM	muscle
21	chr19:21914000-21934600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
22	chr19:21914200-21922600	ZNF genes & repeats	Brain Germinal Matrix	brain
23	chr19:21915000-21920000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr19:21915000-21920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:21915000-21921800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:21915800-21922000	Weak transcription	Fetal Kidney	kidney
27	chr19:21916000-21921600	Weak transcription	Stomach Mucosa	stomach
28	chr19:21916200-21926800	ZNF genes & repeats	Fetal Brain Female	brain
29	chr19:21916400-21921600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr19:21916400-21922600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:21916400-21922600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:21916600-21929800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:21916800-21921600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
34	chr19:21916800-21926800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:21916800-21944600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:21917000-21921600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr19:21917200-21920600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr19:21917200-21921200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:21917200-21921400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:21917200-21924200	Weak transcription	Left Ventricle	heart
41	chr19:21917200-21934200	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:21917400-21920400	ZNF genes & repeats	GM12878-XiMat	blood
43	chr19:21917400-21933400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:21917600-21921400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr19:21917800-21921400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:21917800-21921400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:21917800-21921400	Weak transcription	Brain Hippocampus Middle	brain
48	chr19:21917800-21921400	Weak transcription	Fetal Brain Male	brain
49	chr19:21918000-21920400	ZNF genes & repeats	Thymus	Thymus
50	chr19:21918000-21920800	Weak transcription	Fetal Thymus	thymus

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