Variant report

Variant	rs8109754
Chromosome Location	chr19:41182752-41182753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41181865..41184413-chr19:41196579..41198472,3	K562	blood:
2	chr19:41167287..41169951-chr19:41180209..41183939,4	K562	blood:

Variant related genes	Relation type
ENSG00000105245	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10401344	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10404911	0.90[ASN][1000 genomes]
rs10426415	0.94[ASN][1000 genomes]
rs3815912	0.92[ASN][1000 genomes]
rs45545932	0.92[ASN][1000 genomes]
rs59459325	0.90[ASN][1000 genomes]
rs7255985	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73546894	0.94[ASN][1000 genomes]
rs73931345	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv911727	chr19:41111069-41200511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1058707	chr19:41146147-41200820	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	20 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	chr19:41169800-41184000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:41169800-41195400	Weak transcription	Psoas Muscle	Psoas
3	chr19:41172000-41193000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr19:41172400-41191000	Strong transcription	Stomach Smooth Muscle	stomach
5	chr19:41172600-41193400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:41172600-41193600	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:41172800-41191000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr19:41172800-41192000	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr19:41172800-41192800	Strong transcription	Adipose Nuclei	Adipose
10	chr19:41172800-41193200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:41172800-41193200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:41173000-41183000	Weak transcription	Stomach Mucosa	stomach
13	chr19:41173000-41184000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr19:41173000-41185200	Strong transcription	Aorta	Aorta
15	chr19:41173000-41192800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:41173000-41192800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:41173000-41192800	Strong transcription	Ovary	ovary
18	chr19:41173000-41193200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr19:41173000-41193200	Strong transcription	Osteobl	bone
20	chr19:41173200-41187200	Strong transcription	Fetal Intestine Large	intestine
21	chr19:41173200-41189800	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr19:41173200-41192600	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr19:41173200-41192800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:41173200-41193200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:41173600-41185400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:41173800-41189600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr19:41174000-41185600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr19:41174000-41187400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:41174000-41189600	Strong transcription	HSMM	muscle
30	chr19:41174200-41193200	Strong transcription	Colon Smooth Muscle	Colon
31	chr19:41174400-41185200	Strong transcription	Brain Angular Gyrus	brain
32	chr19:41174800-41184600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr19:41174800-41190000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr19:41175600-41184200	Strong transcription	Brain Substantia Nigra	brain
35	chr19:41175800-41184000	Strong transcription	HUVEC	blood vessel
36	chr19:41175800-41184600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:41175800-41184600	Strong transcription	Fetal Lung	lung
38	chr19:41175800-41185000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr19:41175800-41187400	Strong transcription	NH-A	brain
40	chr19:41175800-41190000	Strong transcription	Brain Anterior Caudate	brain
41	chr19:41175800-41192600	Strong transcription	Fetal Muscle Leg	muscle
42	chr19:41175800-41192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:41175800-41194200	Weak transcription	Fetal Heart	heart
44	chr19:41175800-41196000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr19:41176000-41192800	Weak transcription	GM12878-XiMat	blood
46	chr19:41176000-41195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:41176200-41193200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:41176200-41193200	Strong transcription	Fetal Intestine Small	intestine
49	chr19:41176200-41195600	Weak transcription	Small Intestine	intestine
50	chr19:41176400-41190000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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