Variant report

Variant	rs149327992
Chromosome Location	chr5:73979991-73979992
allele	A/C
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	USF1	chr5:73979887-73980176	H1-hESC	embryonic stem cell:	n/a	chr5:73980098-73980109 chr5:73980093-73980114

No.	Distal block	Cell Line	Cell type
1	chr5:73979598..73982392-chr5:73983812..73990818,9	MCF-7	breast:
2	chr5:73979909..73982593-chr5:73987219..73990536,5	MCF-7	breast:
3	chr5:72857771..72859719-chr5:73979974..73981658,2	K562	blood:
4	chr5:73978938..73982006-chr5:74061565..74064417,3	K562	blood:
5	chr5:73979743..73983565-chr5:73984545..73990071,12	K562	blood:
6	chr5:73979647..73982006-chr5:74061742..74064417,2	K562	blood:

Variant related genes	Relation type
HEXB	TF binding region
ENSG00000164347	Chromatin interaction
ENSG00000049860	Chromatin interaction
ENSG00000164331	Chromatin interaction
ENSG00000164346	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv13844	chr5:73979961-73993853	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73966800-73980200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:73966800-73980600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:73969800-73980600	Weak transcription	HMEC	breast
4	chr5:73969800-73980600	Weak transcription	HSMM	muscle
5	chr5:73969800-73980800	Weak transcription	NHLF	lung
6	chr5:73971800-73980200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:73973800-73980600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:73975200-73980200	Weak transcription	Spleen	Spleen
9	chr5:73976000-73980600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:73976200-73980200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:73976200-73980600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:73976200-73980600	Weak transcription	Osteobl	bone
13	chr5:73976200-73981000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:73976400-73980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:73976400-73980200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:73976400-73980200	Weak transcription	Hela-S3	cervix
17	chr5:73976800-73980600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:73977400-73980800	Weak transcription	HSMMtube	muscle
19	chr5:73978000-73980000	Weak transcription	K562	blood
20	chr5:73978400-73980600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:73978400-73980600	Enhancers	Fetal Intestine Large	intestine
22	chr5:73978600-73980600	Enhancers	Fetal Intestine Small	intestine
23	chr5:73979000-73980200	Weak transcription	A549	lung
24	chr5:73979000-73980800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:73979000-73980800	Weak transcription	NH-A	brain
26	chr5:73979200-73980600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:73979200-73980600	Weak transcription	NHEK	skin
28	chr5:73979200-73980800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:73979400-73980600	Enhancers	Placenta	Placenta

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