Variant report

Variant	rs56248770
Chromosome Location	chr3:178783991-178783992
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	chr3:178780357..178782332-chr3:178782506..178785505,2	MCF-7	breast:
2	chr3:178751571..178753559-chr3:178782217..178784298,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34891097	0.92[ASN][1000 genomes]
rs72622564	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7611926	0.96[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	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
5	esv1792927	chr3:178734558-178877169	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv1841799	chr3:178739594-178884337	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178746000-178784000	Weak transcription	Liver	Liver
2	chr3:178746000-178785200	Weak transcription	Thymus	Thymus
3	chr3:178753600-178784800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:178755600-178787800	Weak transcription	Aorta	Aorta
5	chr3:178756800-178788400	Weak transcription	Fetal Intestine Small	intestine
6	chr3:178756800-178788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:178764200-178787000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr3:178764400-178784600	Weak transcription	K562	blood
9	chr3:178764800-178785200	Weak transcription	Pancreas	Pancrea
10	chr3:178764800-178787200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:178764800-178789000	Weak transcription	Lung	lung
12	chr3:178765000-178785400	Weak transcription	Gastric	stomach
13	chr3:178765000-178786800	Weak transcription	Dnd41	blood
14	chr3:178765200-178784600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:178765200-178789000	Weak transcription	Spleen	Spleen
16	chr3:178768400-178784000	Weak transcription	HUVEC	blood vessel
17	chr3:178768400-178788800	Weak transcription	Small Intestine	intestine
18	chr3:178768600-178788800	Weak transcription	Placenta	Placenta
19	chr3:178769200-178784000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr3:178770200-178784800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:178770600-178784800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr3:178771000-178788400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:178771600-178784800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:178772000-178786800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:178772600-178788800	Weak transcription	Esophagus	oesophagus
26	chr3:178773600-178788600	Weak transcription	Fetal Stomach	stomach
27	chr3:178773800-178784600	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:178774000-178784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:178774400-178784600	Weak transcription	Fetal Intestine Large	intestine
30	chr3:178775000-178786000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:178776000-178784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:178776000-178784000	Weak transcription	Adipose Nuclei	Adipose
33	chr3:178776000-178784800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:178777800-178788400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:178778200-178788600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr3:178778400-178785600	Strong transcription	Osteobl	bone
37	chr3:178779000-178785600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:178779200-178787800	Weak transcription	Fetal Brain Male	brain
39	chr3:178779800-178787200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:178780000-178785600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr3:178780000-178786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:178780200-178785200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:178780200-178785600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr3:178780200-178788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:178780400-178787600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:178780600-178784200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:178780600-178785200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:178780600-178785800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:178780800-178784400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:178780800-178786800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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