Variant report

Variant	rs905742
Chromosome Location	chr15:78753475-78753476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:78753447-78753581	Hela-S3	cervix:	n/a	n/a
2	FOXA1	chr15:78753283-78753740	HepG2	liver:	n/a	n/a
3	FOXA2	chr15:78753443-78753691	HepG2	liver:	n/a	n/a
4	FOXA1	chr15:78753356-78753688	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78748240..78750749-chr15:78750932..78754713,4	K562	blood:
2	chr15:78743131..78745408-chr15:78751883..78754148,2	K562	blood:
3	chr15:78743131..78746223-chr15:78751883..78753767,3	K562	blood:
4	chr15:78730050..78732098-chr15:78751945..78754976,3	MCF-7	breast:
5	chr15:78753474..78756837-chr15:78765952..78769081,5	K562	blood:

No data

Variant related genes	Relation type
IREB2	TF binding region
ENSG00000136381	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11072767	0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12441256	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1847528	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2036530	0.86[YRI][hapmap]
rs2036531	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2055587	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2230940	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2568484	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2568486	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2568491	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2568492	1.00[ASW][hapmap];0.91[LWK][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2656060	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2656064	0.95[AFR][1000 genomes]
rs2656066	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2656067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2938672	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2958720	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4886569	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4886570	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4887060	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6495302	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7168018	1.00[AMR][1000 genomes]
rs73463009	1.00[AMR][1000 genomes]
rs73463024	1.00[AMR][1000 genomes]
rs73463098	1.00[AMR][1000 genomes]
rs8023649	0.85[YRI][hapmap]
rs8026728	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs905741	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9788758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9972290	0.93[YRI][hapmap];0.93[AFR][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	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
2	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
3	esv1806890	chr15:78744695-78786064	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78731600-78756400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:78731600-78760200	Weak transcription	Aorta	Aorta
3	chr15:78732200-78799400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:78732800-78758600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:78739200-78755200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:78739600-78755200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:78740600-78756000	Weak transcription	Brain Germinal Matrix	brain
8	chr15:78741200-78755400	Weak transcription	Fetal Stomach	stomach
9	chr15:78741200-78781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:78743200-78755400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:78743200-78755400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:78743200-78756000	Weak transcription	Placenta	Placenta
13	chr15:78743200-78756000	Weak transcription	HMEC	breast
14	chr15:78743200-78759800	Weak transcription	Esophagus	oesophagus
15	chr15:78743800-78754200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr15:78744600-78755400	Weak transcription	Thymus	Thymus
17	chr15:78746000-78753800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr15:78746200-78754000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr15:78748000-78753800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:78748400-78756400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:78748600-78753600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:78748600-78756800	Weak transcription	Colonic Mucosa	Colon
23	chr15:78748800-78756000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr15:78748800-78757000	Weak transcription	Fetal Heart	heart
25	chr15:78749000-78753800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:78749000-78755200	Weak transcription	Fetal Thymus	thymus
27	chr15:78749000-78755400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:78749000-78755400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr15:78749000-78755400	Weak transcription	Fetal Muscle Leg	muscle
30	chr15:78749000-78755400	Weak transcription	Left Ventricle	heart
31	chr15:78749000-78755400	Weak transcription	Spleen	Spleen
32	chr15:78749000-78756000	Weak transcription	Lung	lung
33	chr15:78749000-78756200	Weak transcription	Fetal Brain Male	brain
34	chr15:78749000-78757000	Weak transcription	Gastric	stomach
35	chr15:78749000-78758600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:78749000-78764800	Weak transcription	Pancreas	Pancrea
37	chr15:78749000-78767800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:78749600-78755400	Weak transcription	HUVEC	blood vessel
39	chr15:78749800-78753600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:78749800-78755400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:78749800-78755400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:78749800-78755400	Weak transcription	Fetal Intestine Small	intestine
43	chr15:78749800-78756000	Weak transcription	NH-A	brain
44	chr15:78749800-78756000	Weak transcription	NHEK	skin
45	chr15:78749800-78764600	Weak transcription	Small Intestine	intestine
46	chr15:78749800-78769600	Weak transcription	Right Ventricle	heart
47	chr15:78750000-78753600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr15:78750000-78753600	Weak transcription	Fetal Kidney	kidney
49	chr15:78750000-78755800	Weak transcription	NHLF	lung
50	chr15:78750000-78756400	Weak transcription	Brain Cingulate Gyrus	brain

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