Variant report

Variant	rs7582918
Chromosome Location	chr2:39185813-39185814
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:39185781-39185831	HAEpiC	amniotic membrane:	n/a
2	chr2:39185781-39185831	HUVEC	blood vessel:	n/a
3	chr2:39185781-39185831	GM19239	blood:	n/a
4	chr2:39185781-39185831	MCF10A-Er-Src	breast:	n/a
5	chr2:39185781-39185831	Hepatocyte	liver:	n/a
6	chr2:39185781-39185831	HRCEpiC	kidney:	n/a
7	chr2:39185781-39185831	MCF-7	breast:	n/a
8	chr2:39185781-39185831	ovcar-3	ovarian:	n/a
9	chr2:39185781-39185831	HEK293	kidney:	embryo
10	chr2:39185781-39185831	PrEC	prostate:	n/a
11	chr2:39185781-39185831	HRE	kidney:	n/a
12	chr2:39185781-39185831	SK-N-SH_RA	brain:	n/a
13	chr2:39185781-39185831	HPAEpiC	pulmonary alveolar:	n/a
14	chr2:39185781-39185831	HCF	heart:	n/a
15	chr2:39185781-39185831	HCPEpiC	choroid plexus:	n/a
16	chr2:39185781-39185831	HRPEpiC	eye:	n/a
17	chr2:39185781-39185831	GM12878	blood:	n/a
18	chr2:39185781-39185831	SKMC	muscle:	n/a
19	chr2:39185781-39185831	AG04450	lung:	fetal
20	chr2:39185781-39185831	T-47D	breast:	n/a
21	chr2:39185781-39185831	GM12891	blood:	n/a
22	chr2:39185781-39185831	U87	brain:	n/a
23	chr2:39185781-39185831	H1-hESC	embryonic stem cell:	embryo
24	chr2:39185781-39185831	RPTEC	kidney:	n/a
25	chr2:39185781-39185831	HL-60	blood:	n/a
26	chr2:39185781-39185831	IMR90	lung:	fetal
27	chr2:39185781-39185831	AG09319	gingival:	n/a
28	chr2:39185781-39185831	NH-A	brain:	n/a
29	chr2:39185781-39185831	HepG2	liver:	n/a
30	chr2:39185781-39185831	SK-N-SH	brain:	n/a
31	chr2:39185781-39185831	AG04449	skin:	fetal
32	chr2:39185781-39185831	LNCaP	prostate:	n/a
33	chr2:39185781-39185831	SK-N-MC	brain:	n/a
34	chr2:39185781-39185831	PANC-1	pancreas:	n/a
35	chr2:39185781-39185831	ECC-1	luminal epithelium:	n/a
36	chr2:39185781-39185831	Jurkat	blood:	n/a
37	chr2:39185781-39185831	NB4	blood:	n/a
38	chr2:39185781-39185831	HMEC	breast:	n/a
39	chr2:39185781-39185831	AG09309	skin:	n/a
40	chr2:39185781-39185831	CMK	blood:	n/a
41	chr2:39185781-39185831	HNPCEpiC	eye:	n/a
42	chr2:39185781-39185831	PFSK-1	brain:	n/a
43	chr2:39185781-39185831	BE2_C	brain:	n/a
44	chr2:39185781-39185831	ProgFib	skin:	n/a
45	chr2:39185781-39185831	SAEC	small airway:	n/a
46	chr2:39185781-39185831	HCM	heart:	n/a
47	chr2:39185781-39185831	HEEpiC	esophagus:	n/a
48	chr2:39185781-39185831	BJ	skin:	n/a
49	chr2:39185781-39185831	GM06990	blood:	n/a
50	chr2:39185781-39185831	NHDF-neo	bronchial:	n/a

No data

Variant related genes	Relation type
ARHGEF33	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10166395	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10166631	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10172714	0.83[EUR][1000 genomes]
rs10190377	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1037495	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1043793	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10779924	0.83[EUR][1000 genomes]
rs12471731	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1531021	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1869514	0.83[EUR][1000 genomes]
rs1947433	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2168044	0.83[EUR][1000 genomes]
rs2278912	0.83[EUR][1000 genomes]
rs3765058	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3796038	0.80[AMR][1000 genomes]
rs422854	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4670269	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4670902	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4670904	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6544183	0.83[EUR][1000 genomes]
rs6544184	0.83[ASN][1000 genomes]
rs6544185	0.83[EUR][1000 genomes]
rs6544186	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6716101	0.83[ASN][1000 genomes]
rs672208	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7571052	0.81[ASN][1000 genomes]
rs7594644	0.83[EUR][1000 genomes]
rs963730	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7582918	SOS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39110200-39186800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:39150000-39186600	Weak transcription	Brain Anterior Caudate	brain
3	chr2:39160400-39186600	Weak transcription	Pancreas	Pancrea
4	chr2:39175000-39186600	Weak transcription	Ovary	ovary
5	chr2:39175000-39187000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:39175200-39186800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:39176600-39186600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:39184600-39186600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:39185400-39186600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:39185400-39186600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:39185400-39186800	Weak transcription	Psoas Muscle	Psoas
12	chr2:39185600-39187000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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