Variant report

Variant	rs2656072
Chromosome Location	chr15:78744292-78744293
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78740565..78742425-chr15:78743943..78746196,2	MCF-7	breast:
2	chr15:78729183..78733288-chr15:78740820..78746070,7	K562	blood:
3	chr15:78735160..78737788-chr15:78742563..78745375,2	MCF-7	breast:
4	chr15:78742361..78745153-chr15:78747081..78749461,2	MCF-7	breast:
5	chr15:78731552..78733950-chr15:78743733..78745911,2	MCF-7	breast:
6	chr15:78742068..78744487-chr15:78745696..78748456,2	K562	blood:
7	chr15:78727207..78732074-chr15:78744204..78747986,5	MCF-7	breast:
8	chr15:78743131..78745408-chr15:78751883..78754148,2	K562	blood:
9	chr15:78743131..78746223-chr15:78751883..78753767,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136381	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10851906	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11072763	0.88[EUR][1000 genomes]
rs11072766	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12101809	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12442456	0.84[ASN][1000 genomes]
rs16969894	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2036529	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2036533	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2568483	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2568485	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568488	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2568490	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2568493	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2568497	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2568499	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2656055	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2656056	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2656069	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2656070	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2656071	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2656073	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2656074	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28480606	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28511883	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28602670	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2869032	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2869045	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2915695	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2938671	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2938674	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2958719	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35031105	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4887053	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7174190	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7174348	0.85[EUR][1000 genomes]
rs924840	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs958025	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9672608	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[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
rs2656072	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	chr15:78734000-78747200	Weak transcription	Fetal Brain Male	brain
9	chr15:78735800-78744400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:78738600-78747400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:78738800-78747400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:78739200-78745200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:78739200-78745600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:78739200-78745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:78739200-78747600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr15:78739200-78748400	Weak transcription	HSMM	muscle
17	chr15:78739200-78748800	Weak transcription	HUVEC	blood vessel
18	chr15:78739200-78749600	Weak transcription	HSMMtube	muscle
19	chr15:78739200-78755200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr15:78739400-78745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:78739400-78747600	Weak transcription	NHDF-Ad	bronchial
22	chr15:78739400-78747800	Weak transcription	Osteobl	bone
23	chr15:78739600-78746800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:78739600-78755200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:78740000-78746600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr15:78740400-78753200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr15:78740600-78748800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:78740600-78756000	Weak transcription	Brain Germinal Matrix	brain
29	chr15:78740800-78748200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:78741000-78744400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:78741000-78747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:78741200-78744400	Strong transcription	A549	lung
33	chr15:78741200-78747000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:78741200-78747000	Weak transcription	Fetal Muscle Leg	muscle
35	chr15:78741200-78755400	Weak transcription	Fetal Stomach	stomach
36	chr15:78741200-78781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:78741800-78745200	Weak transcription	K562	blood
38	chr15:78741800-78745400	Weak transcription	Small Intestine	intestine
39	chr15:78741800-78745600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:78741800-78746600	Weak transcription	Brain Hippocampus Middle	brain
41	chr15:78741800-78747400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:78742000-78745600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr15:78742000-78745600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr15:78742000-78747200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:78742000-78747200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr15:78742000-78747600	Weak transcription	Fetal Lung	lung
47	chr15:78742000-78749000	Weak transcription	NH-A	brain
48	chr15:78742000-78753000	Weak transcription	Dnd41	blood
49	chr15:78742000-78753400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr15:78742200-78745200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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