Variant report

Variant	rs6604882
Chromosome Location	chr1:224240939-224240940
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224239914..224241769-chr1:224243528..224246178,2	K562	blood:
2	chr1:224240818..224242542-chr1:224514996..224517845,2	K562	blood:
3	chr1:224240047..224241557-chr1:224249398..224251506,2	MCF-7	breast:
4	chr1:224240269..224242100-chr1:224243386..224246178,2	K562	blood:

Variant related genes	Relation type
ENSG00000143748	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4653904	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv16231	chr1:224204343-224241314	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6604882	IARS2	cis	cerebellum	SCAN
rs6604882	MOSC1	cis	cerebellum	SCAN
rs6604882	CAPN2	cis	lymphoblastoid	seeQTL
rs6604882	PYCR2	cis	cerebellum	SCAN
rs6604882	DISP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224238400-224241400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:224238800-224242400	Weak transcription	Right Atrium	heart
3	chr1:224238800-224244400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:224239000-224241800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:224239600-224241400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:224240000-224241200	Enhancers	NHDF-Ad	bronchial
7	chr1:224240000-224241800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:224240200-224241000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:224240200-224241000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:224240200-224241000	Flanking Active TSS	HUVEC	blood vessel
11	chr1:224240200-224241000	Enhancers	Osteobl	bone
12	chr1:224240400-224241000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:224240400-224241000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:224240400-224241200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:224240600-224241000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:224240600-224241000	Enhancers	NHEK	skin
17	chr1:224240600-224241200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:224240600-224241200	Enhancers	HMEC	breast
19	chr1:224240600-224241400	Enhancers	NHLF	lung
20	chr1:224240600-224242000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:224240800-224241200	Enhancers	HSMM	muscle
22	chr1:224240800-224241200	Enhancers	NH-A	brain

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