Variant report

Variant	rs6717572
Chromosome Location	chr2:178470394-178470395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178468577..178471398-chr2:178471772..178474287,2	K562	blood:
2	chr2:178469309..178471749-chr2:178504224..178506672,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10196345	0.82[EUR][1000 genomes]
rs10201153	0.88[CEU][hapmap];0.85[MEX][hapmap];0.82[EUR][1000 genomes]
rs10497500	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs13404970	0.81[EUR][1000 genomes]
rs13430517	0.82[EUR][1000 genomes]
rs16865433	0.85[EUR][1000 genomes]
rs3213945	1.00[MEX][hapmap]
rs57562172	0.82[EUR][1000 genomes]
rs59666005	0.82[EUR][1000 genomes]
rs9288004	0.82[EUR][1000 genomes]
rs9288005	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6717572	RBM45	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178462800-178475600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:178462800-178482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:178463200-178471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:178463200-178471200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:178463800-178475400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:178464200-178471200	Weak transcription	HUVEC	blood vessel
7	chr2:178464200-178482600	Weak transcription	Psoas Muscle	Psoas
8	chr2:178464200-178482600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:178464600-178482400	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:178468400-178471400	Weak transcription	Fetal Stomach	stomach
11	chr2:178468400-178482800	Weak transcription	Fetal Brain Male	brain
12	chr2:178469200-178471400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:178469400-178470400	Enhancers	NHDF-Ad	bronchial
14	chr2:178469400-178471000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:178469400-178471200	Weak transcription	Fetal Kidney	kidney
16	chr2:178469400-178471400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:178469400-178471400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:178469400-178471800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:178469400-178475000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:178469400-178475000	Weak transcription	Aorta	Aorta
21	chr2:178469600-178470800	Enhancers	Fetal Lung	lung
22	chr2:178469600-178471400	Weak transcription	HepG2	liver
23	chr2:178470200-178470400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:178470200-178470400	Enhancers	Fetal Brain Female	brain

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