Variant report

Variant	rs7547027
Chromosome Location	chr1:209897772-209897773
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	NFIC	chr1:209897300-209897851	GM12878	blood:	n/a	n/a
2	BCL3	chr1:209897327-209897792	GM12878	blood:	n/a	n/a
3	CREB1	chr1:209897371-209897884	GM12878	blood:	n/a	n/a
4	IKZF1	chr1:209897501-209897956	GM12878	blood:	n/a	n/a
5	ATF2	chr1:209897398-209897976	GM12878	blood:	n/a	n/a
6	BATF	chr1:209897334-209897783	GM12878	blood:	n/a	chr1:209897567-209897578
7	ATF2	chr1:209897289-209897894	GM12878	blood:	n/a	n/a
8	RUNX3	chr1:209897284-209897884	GM12878	blood:	n/a	n/a
9	SP1	chr1:209897310-209897793	GM12878	blood:	n/a	chr1:209897755-209897762
10	NFATC1	chr1:209897259-209897772	GM12878	blood:	n/a	n/a
11	FOXM1	chr1:209897370-209897944	GM12878	blood:	n/a	n/a
12	NFIC	chr1:209897234-209898106	GM12878	blood:	n/a	n/a
13	IRF4	chr1:209897338-209897820	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209897489..209898995-chr1:209918699..209920810,2	K562	blood:

Variant related genes	Relation type
ENSG00000227591	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17015076	0.84[AFR][1000 genomes]
rs4545339	0.84[AFR][1000 genomes]
rs7517562	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1004343	chr1:209879304-209909385	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv525445	chr1:209885318-209912593	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209893400-209898000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:209893600-209899000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:209894000-209898200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:209894400-209907400	Weak transcription	Right Ventricle	heart
5	chr1:209894600-209899800	Weak transcription	Fetal Heart	heart
6	chr1:209895200-209902400	Weak transcription	Left Ventricle	heart
7	chr1:209896600-209898000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:209896800-209898000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:209896800-209898600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:209896800-209899200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:209897000-209897800	Enhancers	Osteobl	bone
12	chr1:209897000-209898000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:209897000-209898600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:209897000-209898800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:209897000-209899000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:209897200-209897800	Enhancers	Thymus	Thymus
17	chr1:209897200-209898000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:209897200-209898000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:209897200-209898800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:209897400-209897800	Enhancers	Ovary	ovary
21	chr1:209897400-209898000	Enhancers	Fetal Thymus	thymus
22	chr1:209897600-209898000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr1:209897600-209899800	Enhancers	Liver	Liver
24	chr1:209897600-209903400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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