Variant report

Variant	rs17078958
Chromosome Location	chr3:46606422-46606423
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:41400333..41402576-chr3:46604913..46606433,2	MCF-7	breast:
2	chr17:41400384..41402129-chr3:46604913..46606433,2	K562	blood:
3	chr3:46526283..46528703-chr3:46605275..46607340,2	K562	blood:
4	chr3:46604527..46607242-chr3:46610810..46613336,2	K562	blood:

Variant related genes	Relation type
ENSG00000012223	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17078957	1.00[AFR][1000 genomes]
rs17296973	0.84[AFR][1000 genomes]
rs60788205	0.81[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46591800-46606600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:46600400-46606600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr3:46600400-46607200	Weak transcription	Gastric	stomach
4	chr3:46600600-46606600	Weak transcription	Thymus	Thymus
5	chr3:46600600-46606800	Weak transcription	Ovary	ovary
6	chr3:46601000-46606600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:46601200-46607200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:46602000-46607000	Weak transcription	Liver	Liver
9	chr3:46602400-46607000	Weak transcription	Right Atrium	heart
10	chr3:46604000-46606600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:46604600-46607000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:46604800-46606800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:46604800-46607200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:46604800-46607200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:46604800-46607200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:46604800-46607200	Weak transcription	Lung	lung
17	chr3:46605000-46607200	Weak transcription	Esophagus	oesophagus
18	chr3:46605200-46607000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:46605200-46607000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:46605400-46606600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:46605400-46607000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:46605800-46607200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr3:46606000-46606600	Enhancers	HSMMtube	muscle
24	chr3:46606000-46607000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr3:46606000-46607000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr3:46606200-46606600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:46606200-46606600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr3:46606200-46606600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:46606200-46607000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:46606200-46607000	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr3:46606200-46607000	Bivalent Enhancer	Fetal Thymus	thymus
32	chr3:46606200-46607600	Enhancers	Spleen	Spleen
33	chr3:46606200-46608000	Active TSS	Left Ventricle	heart
34	chr3:46606200-46608400	Active TSS	Right Ventricle	heart
35	chr3:46606400-46606600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:46606400-46606600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:46606400-46606600	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr3:46606400-46606800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr3:46606400-46606800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr3:46606400-46606800	Bivalent Enhancer	Primary T cells from cord blood	blood
41	chr3:46606400-46606800	Enhancers	Adipose Nuclei	Adipose
42	chr3:46606400-46606800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr3:46606400-46607000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
44	chr3:46606400-46607000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:46606400-46607000	Bivalent Enhancer	Brain Hippocampus Middle	brain
46	chr3:46606400-46607000	Enhancers	HSMM	muscle
47	chr3:46606400-46607000	Enhancers	NH-A	brain
48	chr3:46606400-46607200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:46606400-46607200	Flanking Active TSS	Fetal Heart	heart
50	chr3:46606400-46607200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle

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