Variant report

Variant	rs554521909
Chromosome Location	chr3:23846551-23846552
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	MAFK	chr3:23846262-23846570	HepG2	liver:	n/a	chr3:23846411-23846422 chr3:23846438-23846449
2	MAFF	chr3:23846285-23846561	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:23846193..23848940-chr3:24535065..24537255,2	K562	blood:
2	chr3:23846380..23850116-chr3:23956700..23960461,6	MCF-7	breast:
3	chr3:23243031..23244851-chr3:23845499..23848237,2	MCF-7	breast:
4	chr3:23846531..23848270-chr3:23987055..23988984,2	MCF-7	breast:
5	chr3:23845112..23848622-chr3:23958029..23961906,4	K562	blood:
6	chr3:23845393..23848355-chr3:23958587..23960710,4	K562	blood:

Variant related genes	Relation type
UBE2E1	TF binding region
ENSG00000233153	Chromatin interaction
ENSG00000151090	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000182247	Chromatin interaction
ENSG00000228791	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000174748	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834637	chr3:23703928-23886144	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3378886	chr3:23846373-23849821	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23840000-23847000	Weak transcription	Right Atrium	heart
2	chr3:23840200-23846800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:23840200-23846800	Weak transcription	GM12878-XiMat	blood
4	chr3:23843800-23846600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:23843800-23846800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:23844400-23846800	Enhancers	Fetal Intestine Small	intestine
7	chr3:23844400-23846800	Weak transcription	Small Intestine	intestine
8	chr3:23845400-23846600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:23845600-23846800	Weak transcription	Fetal Lung	lung
10	chr3:23845800-23846600	Enhancers	A549	lung
11	chr3:23846000-23846800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:23846000-23846800	Enhancers	Primary hematopoietic stem cells	blood
13	chr3:23846000-23846800	Enhancers	Fetal Intestine Large	intestine
14	chr3:23846000-23846800	Enhancers	K562	blood
15	chr3:23846000-23847000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr3:23846200-23846600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:23846200-23846600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:23846200-23846600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr3:23846200-23846600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr3:23846200-23846800	Enhancers	Fetal Kidney	kidney
21	chr3:23846200-23847000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:23846200-23847600	Active TSS	Fetal Brain Male	brain
23	chr3:23846400-23846600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:23846400-23846800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:23846400-23846800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:23846400-23846800	Enhancers	Duodenum Mucosa	Duodenum

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