Variant report

Variant	rs6453267
Chromosome Location	chr5:76255756-76255757
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	KAP1	chr5:76254619-76256251	HEK293	kidney:	n/a	chr5:76255365-76255374 chr5:76255057-76255066
2	JUND	chr5:76254687-76256188	SK-N-SH	brain:	n/a	chr5:76255363-76255373 chr5:76255055-76255064 chr5:76255360-76255371 chr5:76255362-76255374 chr5:76255365-76255372 chr5:76255363-76255373 chr5:76255056-76255065 chr5:76255375-76255384 chr5:76255054-76255066 chr5:76255364-76255372 chr5:76255057-76255064 chr5:76255055-76255065 chr5:76255363-76255373 chr5:76255363-76255373 chr5:76255364-76255372 chr5:76255357-76255369
3	GATA1	chr5:76254644-76256212	PBDE	blood:	n/a	chr5:76255375-76255385 chr5:76255593-76255603 chr5:76255054-76255063

Variant related genes	Relation type
CRHBP	TF binding region

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2243018	1.00[ASN][1000 genomes]
rs59233748	1.00[ASN][1000 genomes]
rs636150	1.00[ASN][1000 genomes]
rs639342	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs686868	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1027236	chr5:76190936-76414733	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830355	chr5:76194722-76368020	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr5:76249800-76256600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:76250800-76266400	Weak transcription	Brain Substantia Nigra	brain
3	chr5:76251000-76255800	Weak transcription	Right Atrium	heart
4	chr5:76253000-76267200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:76253800-76257400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:76254200-76256200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:76254200-76256200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:76254200-76256200	Enhancers	HSMM	muscle
9	chr5:76254200-76256400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:76254200-76256400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:76254200-76257200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:76254400-76255800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:76254400-76255800	Enhancers	Hela-S3	cervix
14	chr5:76254400-76256000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr5:76254400-76256000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:76254400-76256200	Enhancers	HSMMtube	muscle
17	chr5:76254400-76256200	Enhancers	K562	blood
18	chr5:76254400-76256200	Enhancers	Osteobl	bone
19	chr5:76254600-76256000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:76254600-76256200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:76254600-76256200	Enhancers	Fetal Intestine Large	intestine
22	chr5:76254600-76256200	Enhancers	NHEK	skin
23	chr5:76254600-76256400	Enhancers	NHDF-Ad	bronchial
24	chr5:76254800-76256400	Enhancers	GM12878-XiMat	blood
25	chr5:76254800-76256600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:76255000-76256000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:76255000-76256000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:76255000-76256000	Enhancers	Adipose Nuclei	Adipose
29	chr5:76255200-76256600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:76255400-76255800	Enhancers	Primary hematopoietic stem cells	blood
31	chr5:76255400-76256000	Enhancers	HUVEC	blood vessel
32	chr5:76255600-76256000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:76255600-76256000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:76255600-76256000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:76255600-76256000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:76255600-76256400	Enhancers	NH-A	brain

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