Variant report

Variant	rs553692996
Chromosome Location	chr6:56734031-56734032
allele	C/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	JUND	chr6:56733352-56734046	SK-N-SH	brain:	n/a	chr6:56733655-56733665 chr6:56733655-56733665 chr6:56733655-56733665 chr6:56733654-56733665
2	NFIC	chr6:56733362-56734262	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr6:56733304-56734201	SK-N-SH	brain:	n/a	chr6:56733685-56733694
4	TEAD4	chr6:56733369-56734093	SK-N-SH	brain:	n/a	n/a
5	MAFK	chr6:56733599-56734176	IMR90	lung:	n/a	n/a
6	JUN	chr6:56733258-56734145	HUVEC	blood vessel:	n/a	chr6:56733655-56733665 chr6:56733655-56733665 chr6:56733275-56733287 chr6:56733277-56733285 chr6:56733655-56733665
7	SP1	chr6:56733316-56734032	HCT-116	colon:	n/a	n/a
8	GATA3	chr6:56733281-56734097	SK-N-SH	brain:	n/a	chr6:56733751-56733758 chr6:56733751-56733758 chr6:56733751-56733758 chr6:56733746-56733762 chr6:56733498-56733510 chr6:56733750-56733758 chr6:56733744-56733765 chr6:56733749-56733759
9	FOXA2	chr6:56733362-56734106	HepG2	liver:	n/a	chr6:56733447-56733459
10	FOS	chr6:56733060-56734034	HUVEC	blood vessel:	n/a	chr6:56733655-56733665 chr6:56733655-56733665 chr6:56733654-56733665 chr6:56733275-56733287 chr6:56733277-56733285 chr6:56733655-56733665 chr6:56733103-56733112
11	GATA3	chr6:56733257-56734091	A549	lung:	n/a	chr6:56733751-56733758 chr6:56733751-56733758 chr6:56733751-56733758 chr6:56733746-56733762 chr6:56733498-56733510 chr6:56733750-56733758 chr6:56733744-56733765 chr6:56733749-56733759
12	FOSL2	chr6:56733327-56734050	SK-N-SH	brain:	n/a	chr6:56733655-56733665 chr6:56733655-56733665 chr6:56733655-56733665
13	JUND	chr6:56733409-56734044	HCT-116	colon:	n/a	chr6:56733655-56733665 chr6:56733655-56733665 chr6:56733655-56733665 chr6:56733654-56733665
14	GATA3	chr6:56733229-56734275	SK-N-SH	brain:	n/a	chr6:56733751-56733758 chr6:56733751-56733758 chr6:56733751-56733758 chr6:56733746-56733762 chr6:56733498-56733510 chr6:56733750-56733758 chr6:56733744-56733765 chr6:56733749-56733759
15	JUND	chr6:56733464-56734304	SK-N-SH	brain:	n/a	chr6:56733655-56733665 chr6:56733655-56733665 chr6:56733655-56733665 chr6:56733654-56733665
16	TCF12	chr6:56733378-56734170	SK-N-SH	brain:	n/a	chr6:56733685-56733694

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56722965..56725223-chr6:56732847..56735248,2	K562	blood:
2	chr6:56725702..56727982-chr6:56732126..56734324,2	K562	blood:

Variant related genes	Relation type
RPL17P26	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1022714	chr6:56729767-56826642	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv538229	chr6:56729767-56826642	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv965728	chr6:56733888-56740633	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56725600-56734800	Enhancers	Hela-S3	cervix
2	chr6:56727200-56734600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:56727600-56734400	Enhancers	HMEC	breast
4	chr6:56727800-56734800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:56728000-56734800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:56728000-56735000	Enhancers	HSMM	muscle
7	chr6:56728000-56735000	Enhancers	NHDF-Ad	bronchial
8	chr6:56728800-56734800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:56730400-56740400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:56731600-56734600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:56731800-56734600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:56731800-56734800	Enhancers	NH-A	brain
13	chr6:56732000-56734800	Enhancers	NHLF	lung
14	chr6:56732400-56734800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:56732600-56736000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:56732800-56734400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:56733000-56734200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:56733000-56734200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:56733000-56734200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:56733000-56734200	Flanking Active TSS	HUVEC	blood vessel
21	chr6:56733000-56734200	Enhancers	NHEK	skin
22	chr6:56733000-56734400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr6:56733000-56734400	Enhancers	HepG2	liver
24	chr6:56733000-56734600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:56733000-56734800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr6:56733200-56734200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr6:56733200-56734400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:56733600-56734400	Flanking Active TSS	GM12878-XiMat	blood
29	chr6:56733800-56734200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr6:56733800-56734400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:56733800-56734400	Flanking Active TSS	Osteobl	bone
32	chr6:56733800-56735200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr6:56734000-56734200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:56734000-56734200	Enhancers	HSMMtube	muscle
35	chr6:56734000-56734800	Enhancers	A549	lung

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