Variant report

Variant	rs8108886
Chromosome Location	chr19:52732912-52732913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52692286..52695844-chr19:52730833..52733280,4	MCF-7	breast:
2	chr19:52731463..52733004-chr19:52746080..52748191,2	K562	blood:

Variant related genes	Relation type
ENSG00000105568	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1006111	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2162779	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7251894	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs755533	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8107718	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers 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 miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv962989	chr19:52732337-52742183	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52695400-52733200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr19:52696000-52733000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:52697600-52733200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr19:52697800-52733000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:52703000-52734600	Strong transcription	Fetal Stomach	stomach
6	chr19:52703200-52733200	Strong transcription	Duodenum Mucosa	Duodenum
7	chr19:52703200-52734000	Strong transcription	Lung	lung
8	chr19:52703600-52733200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:52703800-52733200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:52704000-52733200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:52704400-52733000	Strong transcription	Colonic Mucosa	Colon
12	chr19:52704400-52733200	Strong transcription	Osteobl	bone
13	chr19:52705000-52733000	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr19:52705000-52735200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr19:52709000-52733200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:52710200-52733000	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr19:52711200-52733000	Strong transcription	Thymus	Thymus
18	chr19:52713000-52733400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:52718000-52734200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:52718800-52733000	Strong transcription	HMEC	breast
21	chr19:52719000-52735400	ZNF genes & repeats	A549	lung
22	chr19:52722200-52733200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:52723600-52735200	Strong transcription	Fetal Muscle Leg	muscle
24	chr19:52723800-52733400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr19:52724600-52733000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:52725600-52733000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:52727200-52733400	Strong transcription	Fetal Intestine Small	intestine
28	chr19:52727600-52737800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:52730200-52734400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:52730200-52737800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:52730400-52734000	Weak transcription	Small Intestine	intestine
32	chr19:52730800-52741000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:52731000-52736800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr19:52731000-52736800	Weak transcription	Stomach Mucosa	stomach
35	chr19:52731200-52734400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:52731400-52733000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr19:52731400-52733000	Strong transcription	Placenta	Placenta
38	chr19:52731600-52733200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:52731600-52733200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:52731600-52733200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:52731600-52733200	Weak transcription	Fetal Kidney	kidney
42	chr19:52731600-52734600	Weak transcription	Aorta	Aorta
43	chr19:52731600-52736400	Weak transcription	Fetal Heart	heart
44	chr19:52731600-52738000	Weak transcription	Fetal Brain Male	brain
45	chr19:52731600-52741000	Weak transcription	Colon Smooth Muscle	Colon
46	chr19:52731800-52733000	Strong transcription	HSMM	muscle
47	chr19:52731800-52733400	Weak transcription	K562	blood
48	chr19:52731800-52735400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr19:52731800-52736600	Weak transcription	HUVEC	blood vessel
50	chr19:52732000-52733600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links