Variant report

Variant	rs8036417
Chromosome Location	chr15:78419476-78419477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr15:78419311-78419584	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78415578..78418326-chr15:78419099..78421410,2	MCF-7	breast:

Variant related genes	Relation type
IDH3A	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11072728	0.86[CHB][hapmap];0.91[CHD][hapmap]
rs11072729	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs11547207	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11639461	0.86[ASN][1000 genomes]
rs1542100	0.94[ASN][1000 genomes]
rs16969507	0.92[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs16969508	0.92[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs16969514	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1971151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2304827	0.88[ASN][1000 genomes]
rs2304828	0.90[ASN][1000 genomes]
rs2304829	0.94[ASW][hapmap];0.91[LWK][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2867922	0.92[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs3784328	1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs3784330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62009267	0.86[ASN][1000 genomes]
rs6495273	0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7161765	0.99[ASN][1000 genomes]
rs7162025	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7164338	0.86[CHB][hapmap]
rs72732564	0.86[ASN][1000 genomes]
rs7359294	1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs8028859	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs8032449	0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs8036417	CIB2	cis	Muscle Skeletal	GTEx
rs8036417	LOXL1	cis	parietal	SCAN
rs8036417	CIB2	cis	Esophagus Mucosa	GTEx
rs8036417	CIB2	cis	multi-tissue	Pritchard
rs8036417	CIB2	cis	parietal	SCAN
rs8036417	CIB2	Cis_1M	lymphoblastoid	RTeQTL
rs8036417	CIB2	cis	Thyroid	GTEx
rs8036417	CIB2	cis	lymphoblastoid	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78396200-78421800	Weak transcription	Right Ventricle	heart
2	chr15:78396600-78423800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:78397600-78421400	Weak transcription	Fetal Muscle Leg	muscle
4	chr15:78398400-78423200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:78400000-78422400	Weak transcription	Brain Germinal Matrix	brain
6	chr15:78405600-78421400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:78406000-78421600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr15:78406000-78423000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:78406400-78420000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr15:78406400-78423000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr15:78409000-78423000	Weak transcription	Brain Anterior Caudate	brain
12	chr15:78413600-78421400	Weak transcription	Right Atrium	heart
13	chr15:78413800-78421200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:78413800-78421200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr15:78413800-78421200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:78413800-78422600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr15:78413800-78422600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr15:78415200-78423000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:78415800-78421600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:78416000-78421400	Weak transcription	Fetal Brain Female	brain
21	chr15:78417200-78421200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:78417200-78423200	Weak transcription	Adipose Nuclei	Adipose
23	chr15:78417400-78422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:78417800-78423000	Weak transcription	Fetal Stomach	stomach
25	chr15:78418000-78420000	Enhancers	Thymus	Thymus
26	chr15:78418800-78419600	Genic enhancers	Fetal Intestine Large	intestine
27	chr15:78419000-78421000	Genic enhancers	Fetal Thymus	thymus
28	chr15:78419200-78420600	Enhancers	K562	blood
29	chr15:78419200-78421400	Genic enhancers	Fetal Intestine Small	intestine
30	chr15:78419400-78419600	Enhancers	Skeletal Muscle Female	skeletal muscle

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