Variant report

Variant	rs8104809
Chromosome Location	chr19:37970229-37970230
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65269953..65272188-chr19:37968874..37970374,2	K562	blood:
2	chr19:37957079..37959743-chr19:37967957..37970687,2	K562	blood:

Variant related genes	Relation type
ENSG00000196437	Chromatin interaction
ENSG00000171827	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11667497	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667866	1.00[ASN][1000 genomes]
rs11668217	1.00[ASN][1000 genomes]
rs11669502	1.00[ASN][1000 genomes]
rs11671057	1.00[ASN][1000 genomes]
rs11671358	1.00[ASN][1000 genomes]
rs11671510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11672064	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11672330	1.00[ASN][1000 genomes]
rs16973488	1.00[ASN][1000 genomes]
rs35895160	1.00[ASN][1000 genomes]
rs56822639	1.00[ASN][1000 genomes]
rs6508730	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6508731	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7245717	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246762	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7250440	0.85[YRI][hapmap]
rs7257174	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7258798	0.87[YRI][hapmap]
rs7259754	0.81[AFR][1000 genomes]
rs7260625	0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs8103087	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108658	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8108739	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1056753	chr19:37963714-38015943	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv579467	chr19:37969499-37972805	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37961000-37973000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37961000-37974000	Weak transcription	Stomach Mucosa	stomach
3	chr19:37961400-37970600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:37961400-37980400	ZNF genes & repeats	Liver	Liver
5	chr19:37962200-37976200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:37962200-37976400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr19:37962200-37977800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:37962200-37977800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:37962400-37977600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr19:37962400-37979200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:37963200-37976600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
12	chr19:37963200-37981000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:37963800-37976400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
14	chr19:37963800-37985600	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr19:37964000-37976400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr19:37964200-37977600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
17	chr19:37965800-37971600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:37966200-37970400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr19:37966200-37970400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr19:37966200-37976400	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr19:37966200-37979200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr19:37966200-37984000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr19:37966400-37976800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr19:37966600-37976000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
25	chr19:37966600-37976200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
26	chr19:37966600-37977800	ZNF genes & repeats	Fetal Lung	lung
27	chr19:37966600-37977800	ZNF genes & repeats	Dnd41	blood
28	chr19:37966800-37977600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:37967200-37970600	Strong transcription	Osteobl	bone
30	chr19:37967400-37972600	Weak transcription	NH-A	brain
31	chr19:37967800-37973000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr19:37968000-37971600	Weak transcription	Psoas Muscle	Psoas
33	chr19:37968000-37971600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:37968200-37971000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:37968200-37971000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:37968200-37971000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:37968200-37971000	Weak transcription	Brain Germinal Matrix	brain
38	chr19:37968200-37971000	Weak transcription	Fetal Intestine Small	intestine
39	chr19:37968200-37971000	Weak transcription	Lung	lung
40	chr19:37968200-37971200	Weak transcription	Gastric	stomach
41	chr19:37968200-37971400	Weak transcription	HSMM	muscle
42	chr19:37968200-37971600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:37968200-37971600	Weak transcription	Brain Anterior Caudate	brain
44	chr19:37968200-37971600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:37968200-37971600	Weak transcription	Colonic Mucosa	Colon
46	chr19:37968200-37971600	Weak transcription	Fetal Brain Male	brain
47	chr19:37968200-37971600	Weak transcription	Fetal Thymus	thymus
48	chr19:37968200-37972600	Weak transcription	Brain Angular Gyrus	brain
49	chr19:37968200-37972600	Weak transcription	HSMMtube	muscle
50	chr19:37968200-37972600	Weak transcription	HUVEC	blood vessel

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