Variant report

Variant	rs4713154
Chromosome Location	chr6:28232669-28232670
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	JUN	chr6:28232647-28233026	K562	blood:	n/a	chr6:28232810-28232819 chr6:28232810-28232818 chr6:28232810-28232817
2	JUND	chr6:28232620-28233101	Hela-S3	cervix:	n/a	chr6:28232810-28232819 chr6:28232810-28232818 chr6:28232810-28232817
3	JUN	chr6:28232616-28232980	K562	blood:	n/a	chr6:28232810-28232819 chr6:28232810-28232818 chr6:28232810-28232817
4	EP300	chr6:28232669-28232985	K562	blood:	n/a	chr6:28232842-28232856 chr6:28232810-28232819
5	GATA3	chr6:28232659-28233124	MCF-7	breast:	n/a	chr6:28232852-28232873 chr6:28232859-28232866 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232770-28232780 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232772-28232779 chr6:28232858-28232866 chr6:28232856-28232866 chr6:28233022-28233039 chr6:28232772-28232782 chr6:28233021-28233028 chr6:28232855-28232871
6	JUND	chr6:28232621-28233022	K562	blood:	n/a	chr6:28232810-28232819 chr6:28232810-28232818 chr6:28232810-28232817
7	CEBPD	chr6:28232539-28233090	K562	blood:	n/a	n/a
8	JUN	chr6:28232641-28232969	K562	blood:	n/a	chr6:28232810-28232819 chr6:28232810-28232818 chr6:28232810-28232817
9	GATA3	chr6:28232481-28233221	SK-N-SH	brain:	n/a	chr6:28232852-28232873 chr6:28232859-28232866 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232770-28232780 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232772-28232779 chr6:28232858-28232866 chr6:28232856-28232866 chr6:28233022-28233039 chr6:28232772-28232782 chr6:28233021-28233028 chr6:28232855-28232871
10	CEBPD	chr6:28232516-28233113	K562	blood:	n/a	n/a
11	FOS	chr6:28232629-28232979	K562	blood:	n/a	chr6:28232810-28232819 chr6:28232810-28232818 chr6:28232810-28232817
12	GATA1	chr6:28232611-28233252	K562	blood:	n/a	chr6:28232852-28232873 chr6:28232859-28232866 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232770-28232780 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232772-28232779 chr6:28232856-28232866 chr6:28233022-28233039 chr6:28232772-28232782 chr6:28233021-28233028 chr6:28232855-28232871
13	GATA2	chr6:28232616-28233038	HUVEC	blood vessel:	n/a	chr6:28232852-28232873 chr6:28232859-28232866 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232770-28232780 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232772-28232779 chr6:28232856-28232866 chr6:28232772-28232782 chr6:28233021-28233028 chr6:28232855-28232871 chr6:28232769-28232783
14	POLR2A	chr6:28231755-28232754	K562	blood:	n/a	n/a
15	GATA3	chr6:28232478-28233199	MCF-7	breast:	n/a	chr6:28232852-28232873 chr6:28232859-28232866 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232770-28232780 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232772-28232779 chr6:28232858-28232866 chr6:28232856-28232866 chr6:28233022-28233039 chr6:28232772-28232782 chr6:28233021-28233028 chr6:28232855-28232871
16	GATA2	chr6:28232558-28233084	K562	blood:	n/a	chr6:28232852-28232873 chr6:28232859-28232866 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232770-28232780 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232772-28232779 chr6:28232856-28232866 chr6:28233022-28233039 chr6:28232772-28232782 chr6:28233021-28233028 chr6:28232855-28232871 chr6:28232769-28232783
17	FOS	chr6:28232640-28232978	Hela-S3	cervix:	n/a	chr6:28232810-28232819 chr6:28232810-28232818 chr6:28232810-28232817
18	RCOR1	chr6:28232639-28232992	K562	blood:	n/a	n/a
19	PRDM1	chr6:28232604-28233045	Hela-S3	cervix:	n/a	chr6:28232845-28232860
20	GATA3	chr6:28232498-28233172	SK-N-SH	brain:	n/a	chr6:28232852-28232873 chr6:28232859-28232866 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232770-28232780 chr6:28232859-28232866 chr6:28232772-28232779 chr6:28232772-28232779 chr6:28232858-28232866 chr6:28232856-28232866 chr6:28233022-28233039 chr6:28232772-28232782 chr6:28233021-28233028 chr6:28232855-28232871
21	FOSL1	chr6:28232613-28232947	K562	blood:	n/a	chr6:28232810-28232819 chr6:28232810-28232818 chr6:28232808-28232819 chr6:28232810-28232817
22	STAT3	chr6:28232659-28232981	Hela-S3	cervix:	n/a	chr6:28232847-28232858 chr6:28232810-28232819 chr6:28232809-28232818
23	JUN	chr6:28232650-28232943	K562	blood:	n/a	chr6:28232810-28232819 chr6:28232810-28232818 chr6:28232810-28232817
24	ATF1	chr6:28232667-28232907	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:28108136..28111844-chr6:28229127..28232755,4	K562	blood:
2	chr6:28020207..28021946-chr6:28231611..28234328,2	K562	blood:
3	chr6:28232169..28234255-chr6:28237329..28239836,2	MCF-7	breast:
4	chr6:28192920..28194978-chr6:28231042..28233452,2	K562	blood:
5	chr6:28091663..28094187-chr6:28232383..28234529,2	MCF-7	breast:
6	chr6:28184789..28191313-chr6:28230652..28235913,7	K562	blood:
7	chr6:28230426..28232674-chr6:28234865..28236670,2	K562	blood:

Variant related genes	Relation type
ENSG00000197062	TF binding region
ENSG00000137185	Chromatin interaction
ENSG00000182477	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000196812	Chromatin interaction
ENSG00000198315	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1144707	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1150667	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs1150675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1150677	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1150681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1150706	1.00[AMR][1000 genomes]
rs12208060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225589	1.00[AMR][1000 genomes]
rs1225601	1.00[AMR][1000 genomes]
rs1233663	1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233668	1.00[AMR][1000 genomes]
rs1778485	1.00[AMR][1000 genomes]
rs213229	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs213234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs213242	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2394048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2531829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2743874	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2799080	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2859357	1.00[YRI][hapmap]
rs2859361	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2859366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59183152	1.00[AMR][1000 genomes]
rs6902266	1.00[AMR][1000 genomes]
rs853675	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs853677	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs853680	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs853686	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs853691	1.00[AMR][1000 genomes]
rs853692	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

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	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28227000-28233800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr6:28227400-28234400	Weak transcription	HSMMtube	muscle
3	chr6:28227600-28233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:28227600-28233800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:28227600-28233800	Weak transcription	HMEC	breast
6	chr6:28227800-28234400	Weak transcription	Right Atrium	heart
7	chr6:28228200-28234600	Weak transcription	Left Ventricle	heart
8	chr6:28228400-28233800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:28228400-28234000	Weak transcription	Psoas Muscle	Psoas
10	chr6:28230000-28233800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:28230000-28234200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:28230400-28234600	Weak transcription	Right Ventricle	heart
13	chr6:28231400-28233200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:28231800-28233400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:28232000-28233800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:28232000-28233800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:28232000-28233800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr6:28232000-28234400	Enhancers	Hela-S3	cervix
19	chr6:28232200-28233800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:28232200-28234000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:28232200-28234000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:28232200-28234200	Weak transcription	Primary T cells from cord blood	blood
23	chr6:28232200-28234200	Weak transcription	Osteobl	bone
24	chr6:28232400-28233000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:28232400-28233000	Enhancers	HUVEC	blood vessel
26	chr6:28232400-28234000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:28232400-28234000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:28232600-28234200	Enhancers	K562	blood

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