Variant report

Variant	rs7163303
Chromosome Location	chr15:40188992-40188993
allele	A/T
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	GATA1	chr15:40188974-40189947	K562	blood:	n/a	chr15:40189623-40189633 chr15:40189627-40189644
2	GATA1	chr15:40188823-40190420	PBDE	blood:	n/a	chr15:40189623-40189633 chr15:40189627-40189644 chr15:40190170-40190178 chr15:40190291-40190298
3	CEBPB	chr15:40188962-40189431	IMR90	lung:	n/a	chr15:40189144-40189155 chr15:40189142-40189155

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40183021..40186569-chr15:40187372..40191389,4	K562	blood:
2	chr15:40172210..40174400-chr15:40188762..40191651,2	K562	blood:

Variant related genes	Relation type
GPR176	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1808784	1.00[AMR][1000 genomes]
rs2640644	1.00[ASN][1000 genomes]
rs7162104	1.00[AMR][1000 genomes]
rs7184017	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8030203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9744395	0.89[AFR][1000 genomes];1.00[AMR][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40180200-40197000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:40180600-40189200	Weak transcription	HSMMtube	muscle
3	chr15:40180800-40197200	Weak transcription	Pancreas	Pancrea
4	chr15:40181400-40189000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:40181600-40196600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:40181600-40196800	Weak transcription	NHEK	skin
7	chr15:40183400-40189200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:40184000-40190800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:40184000-40199600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:40185200-40189200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:40185200-40189400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:40185200-40189400	Weak transcription	HSMM	muscle
13	chr15:40185800-40190000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:40187400-40190000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:40187400-40191200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:40187600-40190200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:40187800-40191000	Enhancers	NH-A	brain
18	chr15:40188000-40190000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr15:40188000-40194200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:40188200-40189400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:40188200-40189400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:40188200-40190000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:40188400-40189000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:40188400-40190000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:40188400-40190800	Enhancers	NHLF	lung
26	chr15:40188400-40191000	Enhancers	K562	blood
27	chr15:40188400-40191200	Enhancers	Osteobl	bone
28	chr15:40188400-40191600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr15:40188400-40191800	Enhancers	NHDF-Ad	bronchial
30	chr15:40188600-40189000	Weak transcription	HUVEC	blood vessel
31	chr15:40188800-40189000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr15:40188800-40189400	Enhancers	Aorta	Aorta
33	chr15:40188800-40189600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:40188800-40189600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:40188800-40190800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:40188800-40191000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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