Variant report

Variant	rs7531519
Chromosome Location	chr1:224251838-224251839
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224249439..224252830-chr1:224300873..224303408,3	MCF-7	breast:
2	chr1:224250641..224252254-chr1:224261183..224263972,2	K562	blood:

Variant related genes	Relation type
ENSG00000143756	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10799463	0.88[JPT][hapmap]
rs10916247	0.88[JPT][hapmap]
rs10916264	0.81[JPT][hapmap]
rs1935891	0.81[JPT][hapmap]
rs4653923	0.81[JPT][hapmap]
rs6669606	0.81[JPT][hapmap]
rs6681233	0.81[JPT][hapmap]
rs6683908	0.81[JPT][hapmap]
rs6683927	0.81[JPT][hapmap]
rs6692043	0.81[JPT][hapmap]
rs6695529	0.81[JPT][hapmap]
rs7535721	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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 target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7531519	DEGS1	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224246400-224253400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:224247000-224252200	Weak transcription	HMEC	breast
3	chr1:224248000-224253200	Weak transcription	HUVEC	blood vessel
4	chr1:224248400-224252400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:224249600-224252000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:224249600-224255200	Weak transcription	K562	blood
7	chr1:224249600-224256000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:224249800-224253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:224250600-224252600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:224250600-224257800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:224251000-224253800	Enhancers	Fetal Intestine Large	intestine
12	chr1:224251200-224252000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:224251400-224252200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:224251400-224252200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:224251400-224252400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:224251400-224252600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:224251400-224252600	Enhancers	Small Intestine	intestine
18	chr1:224251400-224253000	Enhancers	Gastric	stomach
19	chr1:224251400-224253800	Enhancers	Fetal Intestine Small	intestine
20	chr1:224251400-224253800	Enhancers	Stomach Mucosa	stomach
21	chr1:224251600-224252000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:224251600-224252400	Weak transcription	Duodenum Mucosa	Duodenum

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