Variant report

Variant	rs1985606
Chromosome Location	chr4:56207711-56207712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56207398..56211252-chr4:56263231..56266943,4	K562	blood:
2	chr4:56207398..56209171-chr4:56264668..56267500,2	K562	blood:
3	chr4:56206647..56208292-chr4:56265434..56267347,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134851	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10001607	0.89[CEU][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.84[EUR][1000 genomes]
rs10001859	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11133375	0.92[CEU][hapmap];0.88[CHD][hapmap];0.80[JPT][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11727256	1.00[ASN][1000 genomes]
rs11730275	0.99[ASN][1000 genomes]
rs12650678	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13105055	1.00[ASN][1000 genomes]
rs13124164	0.94[EUR][1000 genomes]
rs2063577	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2538	0.88[CHB][hapmap]
rs34157065	1.00[ASN][1000 genomes]
rs4864982	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs576732	0.88[CHB][hapmap]
rs6813878	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835891	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6854287	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7663650	0.82[YRI][hapmap]
rs7664100	0.92[CEU][hapmap];0.88[CHD][hapmap];0.80[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7668085	1.00[ASN][1000 genomes]
rs7672248	0.83[EUR][1000 genomes]
rs819266	0.88[CHB][hapmap]
rs819268	0.88[CHB][hapmap]
rs819269	0.88[CHB][hapmap]
rs819270	0.88[CHB][hapmap]
rs9790808	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1985606	SORD	trans	lymphoblastoid	seeQTL
rs1985606	TMEM165	cis	cerebellum	SCAN
rs1985606	TMEM165	cis	parietal	SCAN
rs1985606	SRD5A2L	cis	multi-tissue	Pritchard

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56203600-56210400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:56205800-56207800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:56205800-56208200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:56206200-56211800	Weak transcription	Adipose Nuclei	Adipose
5	chr4:56206600-56211200	Weak transcription	Stomach Mucosa	stomach
6	chr4:56206800-56211200	Weak transcription	Fetal Intestine Small	intestine
7	chr4:56206800-56211600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr4:56207000-56211200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:56207600-56207800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:56207600-56208000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:56207600-56208200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:56207600-56208200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:56207600-56211800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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