Variant report

Variant	rs2958719
Chromosome Location	chr15:78743029-78743030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78596669..78599489-chr15:78741246..78743647,2	K562	blood:
2	chr15:78742068..78744005-chr15:78744591..78747196,2	K562	blood:
3	chr15:78728815..78732016-chr15:78740099..78743887,5	MCF-7	breast:
4	chr15:78729183..78733288-chr15:78740820..78746070,7	K562	blood:
5	chr15:78735160..78737788-chr15:78742563..78745375,2	MCF-7	breast:
6	chr15:78742361..78745153-chr15:78747081..78749461,2	MCF-7	breast:
7	chr15:78591688..78594720-chr15:78740653..78743067,3	MCF-7	breast:
8	chr15:78742068..78744487-chr15:78745696..78748456,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136381	Chromatin interaction
ENSG00000140395	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10851906	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072763	0.89[EUR][1000 genomes]
rs11072766	0.85[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12101809	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12442456	0.81[ASN][1000 genomes]
rs16969894	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2036529	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2036533	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2568483	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2568485	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2568488	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2568490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568497	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2568498	0.86[JPT][hapmap];0.85[YRI][hapmap]
rs2568499	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2656055	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2656056	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2656069	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2656070	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2656071	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2656072	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2656073	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2656074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28480606	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28511883	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28602670	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2869032	0.93[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2869045	0.93[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2915695	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2938671	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2938674	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35031105	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4887053	0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5019044	1.00[CEU][hapmap]
rs7174190	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7174348	0.86[EUR][1000 genomes]
rs924840	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs958025	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9672608	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
3	nsv833063	chr15:78605215-78754945	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2958719	IREB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78731400-78745400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:78731600-78756400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:78731600-78760200	Weak transcription	Aorta	Aorta
4	chr15:78732200-78747600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:78732200-78799400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:78732400-78744400	Weak transcription	Fetal Kidney	kidney
7	chr15:78732800-78758600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:78733400-78744000	Strong transcription	Primary B cells from cord blood	blood
9	chr15:78733800-78743400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:78734000-78743200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr15:78734000-78747200	Weak transcription	Fetal Brain Male	brain
12	chr15:78735000-78743600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:78735800-78744400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:78738600-78747400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:78738800-78747400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr15:78739200-78743200	Enhancers	Adipose Nuclei	Adipose
17	chr15:78739200-78745200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:78739200-78745600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr15:78739200-78745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:78739200-78747600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:78739200-78748400	Weak transcription	HSMM	muscle
22	chr15:78739200-78748800	Weak transcription	HUVEC	blood vessel
23	chr15:78739200-78749600	Weak transcription	HSMMtube	muscle
24	chr15:78739200-78755200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr15:78739400-78745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr15:78739400-78747600	Weak transcription	NHDF-Ad	bronchial
27	chr15:78739400-78747800	Weak transcription	Osteobl	bone
28	chr15:78739600-78746800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:78739600-78755200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:78740000-78743200	Enhancers	Gastric	stomach
31	chr15:78740000-78746600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr15:78740200-78743200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:78740200-78743400	Enhancers	Left Ventricle	heart
34	chr15:78740200-78744200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:78740400-78753200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr15:78740600-78748800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:78740600-78756000	Weak transcription	Brain Germinal Matrix	brain
38	chr15:78740800-78743200	Enhancers	Stomach Mucosa	stomach
39	chr15:78740800-78748200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr15:78741000-78743200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr15:78741000-78744400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:78741000-78747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:78741200-78743200	Enhancers	Psoas Muscle	Psoas
44	chr15:78741200-78744200	Weak transcription	Thymus	Thymus
45	chr15:78741200-78744400	Strong transcription	A549	lung
46	chr15:78741200-78747000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:78741200-78747000	Weak transcription	Fetal Muscle Leg	muscle
48	chr15:78741200-78755400	Weak transcription	Fetal Stomach	stomach
49	chr15:78741200-78781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:78741800-78743200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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