Variant report

Variant	rs2605198
Chromosome Location	chr5:114749904-114749905
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114749469..114752201-chr5:114879455..114881103,2	MCF-7	breast:
2	chr5:114749201..114751602-chr5:114786972..114789566,2	K562	blood:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2925167	1.00[CEU][hapmap]
rs2964554	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3510970	chr5:114745429-114749915	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3510971	chr5:114745429-114749915	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2605198	DDX6	trans	brain	seeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114749400-114751200	Enhancers	Fetal Muscle Leg	muscle
2	chr5:114749400-114751200	Enhancers	Left Ventricle	heart
3	chr5:114749400-114751400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:114749400-114751800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:114749400-114752000	Enhancers	Brain Angular Gyrus	brain
6	chr5:114749400-114753200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:114749400-114753200	Enhancers	NHLF	lung
8	chr5:114749400-114756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:114749600-114750000	Enhancers	Duodenum Mucosa	Duodenum
10	chr5:114749600-114750000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr5:114749600-114750400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:114749600-114750800	Enhancers	Brain Substantia Nigra	brain
13	chr5:114749600-114751200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:114749600-114751200	Enhancers	Placenta	Placenta
15	chr5:114749600-114751200	Enhancers	Psoas Muscle	Psoas
16	chr5:114749600-114751200	Enhancers	HSMM	muscle
17	chr5:114749600-114751200	Enhancers	HSMMtube	muscle
18	chr5:114749600-114751400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:114749600-114751600	Enhancers	Right Ventricle	heart
20	chr5:114749600-114751600	Weak transcription	Small Intestine	intestine
21	chr5:114749600-114751800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:114749600-114751800	Enhancers	Fetal Heart	heart
23	chr5:114749600-114752800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:114749600-114752800	Enhancers	Fetal Intestine Small	intestine
25	chr5:114749600-114753000	Enhancers	Stomach Mucosa	stomach
26	chr5:114749600-114753000	Enhancers	NHDF-Ad	bronchial
27	chr5:114749600-114753400	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:114749600-114754000	Enhancers	Brain Hippocampus Middle	brain
29	chr5:114749600-114754200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:114749800-114750200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr5:114749800-114750200	Enhancers	Colon Smooth Muscle	Colon
32	chr5:114749800-114750200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr5:114749800-114750400	Active TSS	Colonic Mucosa	Colon
34	chr5:114749800-114750600	Enhancers	Brain Anterior Caudate	brain
35	chr5:114749800-114750600	Enhancers	Hela-S3	cervix
36	chr5:114749800-114750800	Active TSS	Rectal Smooth Muscle	rectum
37	chr5:114749800-114751000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:114749800-114751000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr5:114749800-114751000	Enhancers	Right Atrium	heart
40	chr5:114749800-114751200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:114749800-114751200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:114749800-114751200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr5:114749800-114751200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr5:114749800-114751200	Enhancers	Stomach Smooth Muscle	stomach
45	chr5:114749800-114751200	Enhancers	Osteobl	bone
46	chr5:114749800-114751400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:114749800-114751400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:114749800-114751800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:114749800-114752600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr5:114749800-114752800	Enhancers	Fetal Intestine Large	intestine

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