Variant report

Variant	rs813761
Chromosome Location	chr5:114871727-114871728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114871080..114874419-chr5:114878380..114881579,3	MCF-7	breast:
2	chr5:114630084..114632961-chr5:114870291..114872236,2	K562	blood:
3	chr5:114869947..114871868-chr5:114902039..114905014,2	K562	blood:
4	chr5:114871294..114875752-chr5:114877507..114881029,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction
ENSG00000164221	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12187973	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs171774	0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs187682	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2169771	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2546484	0.83[CEU][hapmap]
rs2546486	0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2546487	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2559990	0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs256938	0.85[CEU][hapmap]
rs256940	0.83[CHB][hapmap]
rs256943	0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs256944	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs256945	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs256956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256959	0.96[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256964	0.90[CHB][hapmap]
rs256968	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs256976	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs256978	0.80[ASN][1000 genomes]
rs256980	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs256984	0.86[EUR][1000 genomes]
rs256986	0.86[EUR][1000 genomes]
rs256994	0.86[ASN][1000 genomes]
rs256996	0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs256997	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs372702	0.83[CEU][hapmap]
rs387718	0.86[ASN][1000 genomes]
rs415577	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6893854	0.80[CEU][hapmap]
rs6894123	0.80[CEU][hapmap]

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	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	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr5:114857800-114877200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:114858600-114878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:114858800-114876200	Weak transcription	Fetal Stomach	stomach
4	chr5:114860800-114874000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:114860800-114877200	Weak transcription	Colonic Mucosa	Colon
6	chr5:114861000-114878600	Weak transcription	Pancreas	Pancrea
7	chr5:114861000-114878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:114861000-114878800	Weak transcription	Spleen	Spleen
9	chr5:114861200-114872400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:114861200-114874200	Weak transcription	Aorta	Aorta
11	chr5:114861200-114875800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:114861200-114878600	Weak transcription	Esophagus	oesophagus
13	chr5:114861400-114871800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:114861400-114874200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:114861400-114874600	Weak transcription	Thymus	Thymus
16	chr5:114861400-114875400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:114861400-114877200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:114861600-114874200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:114863400-114874600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:114863600-114873000	Weak transcription	Ovary	ovary
21	chr5:114863600-114878600	Weak transcription	Gastric	stomach
22	chr5:114864200-114874200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:114864800-114874000	Weak transcription	Small Intestine	intestine
24	chr5:114866000-114872800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:114867600-114872000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:114867600-114872400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:114867800-114872200	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:114867800-114873000	Weak transcription	Psoas Muscle	Psoas
29	chr5:114867800-114873000	Weak transcription	Right Atrium	heart
30	chr5:114867800-114874000	Weak transcription	Left Ventricle	heart
31	chr5:114867800-114875600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:114868000-114872800	Weak transcription	Stomach Mucosa	stomach
33	chr5:114868200-114872200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:114868200-114872600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:114868400-114874000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:114868400-114878000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:114868600-114872000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:114868600-114872400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:114868600-114872800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:114868600-114875000	Strong transcription	HSMM	muscle
41	chr5:114868800-114872000	Weak transcription	Fetal Intestine Large	intestine
42	chr5:114868800-114874200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:114869000-114875400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:114869200-114875600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:114869200-114876200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:114869800-114874800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:114870000-114872000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:114870000-114875400	Strong transcription	K562	blood
49	chr5:114870000-114876200	Strong transcription	Fetal Thymus	thymus
50	chr5:114870000-114877400	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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