Variant report

Variant	rs637028
Chromosome Location	chr11:73660546-73660547
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73660268-73660777	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73660510-73660560	RPTEC	kidney:	n/a
2	chr11:73660510-73660560	HRPEpiC	eye:	n/a
3	chr11:73660510-73660560	AG10803	skin:	n/a
4	chr11:73660510-73660560	HEK293	kidney:	embryo
5	chr11:73660510-73660560	HNPCEpiC	eye:	n/a
6	chr11:73660510-73660560	HAEpiC	amniotic membrane:	n/a
7	chr11:73660510-73660560	GM12878	blood:	n/a
8	chr11:73660510-73660560	Caco-2	colon:	n/a
9	chr11:73660510-73660560	H1-hESC	embryonic stem cell:	embryo
10	chr11:73660510-73660560	HUVEC	blood vessel:	n/a
11	chr11:73660510-73660560	SK-N-SH_RA	brain:	n/a
12	chr11:73660510-73660560	NHDF-neo	bronchial:	n/a
13	chr11:73660510-73660560	MCF10A-Er-Src	breast:	n/a
14	chr11:73660510-73660560	NT2-D1	testis:	n/a
15	chr11:73660510-73660560	AG09309	skin:	n/a
16	chr11:73660510-73660560	HRE	kidney:	n/a
17	chr11:73660510-73660560	HIPEpiC	eye:	n/a
18	chr11:73660510-73660560	NHBE	bronchial:	n/a
19	chr11:73660510-73660560	SK-N-SH	brain:	n/a
20	chr11:73660510-73660560	U87	brain:	n/a
21	chr11:73660510-73660560	GM12892	blood:	n/a
22	chr11:73660510-73660560	GM19239	blood:	n/a
23	chr11:73660510-73660560	Jurkat	blood:	n/a
24	chr11:73660510-73660560	ProgFib	skin:	n/a
25	chr11:73660510-73660560	HL-60	blood:	n/a
26	chr11:73660510-73660560	AoSMC	blood vessel:	n/a
27	chr11:73660510-73660560	HepG2	liver:	n/a
28	chr11:73660510-73660560	GM06990	blood:	n/a
29	chr11:73660510-73660560	HCPEpiC	choroid plexus:	n/a
30	chr11:73660510-73660560	ECC-1	luminal epithelium:	n/a
31	chr11:73660510-73660560	HCF	heart:	n/a
32	chr11:73660510-73660560	PANC-1	pancreas:	n/a
33	chr11:73660510-73660560	K562	blood:	n/a
34	chr11:73660510-73660560	T-47D	breast:	n/a
35	chr11:73660510-73660560	AG09319	gingival:	n/a
36	chr11:73660510-73660560	PrEC	prostate:	n/a
37	chr11:73660510-73660560	ovcar-3	ovarian:	n/a
38	chr11:73660510-73660560	GM12891	blood:	n/a
39	chr11:73660510-73660560	A549	lung:	n/a
40	chr11:73660510-73660560	SKMC	muscle:	n/a
41	chr11:73660510-73660560	HMEC	breast:	n/a
42	chr11:73660510-73660560	BJ	skin:	n/a
43	chr11:73660510-73660560	NH-A	brain:	n/a
44	chr11:73660510-73660560	MCF-7	breast:	n/a
45	chr11:73660510-73660560	PFSK-1	brain:	n/a
46	chr11:73660510-73660560	Hela-S3	cervix:	n/a
47	chr11:73660510-73660560	HCM	heart:	n/a
48	chr11:73660510-73660560	BE2_C	brain:	n/a
49	chr11:73660510-73660560	IMR90	lung:	fetal
50	chr11:73660510-73660560	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
DNAJB13	TF binding region
DNAJB13	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1122373	0.93[CHD][hapmap]
rs11235909	0.83[CHD][hapmap]
rs11235940	0.93[CHD][hapmap]
rs11235948	0.93[CHD][hapmap];0.82[ASN][1000 genomes]
rs11235956	0.80[ASN][1000 genomes]
rs12269892	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs12284230	0.95[ASN][1000 genomes]
rs12284235	0.93[CHD][hapmap]
rs12284670	0.83[CHD][hapmap]
rs12287418	0.84[ASN][1000 genomes]
rs12291665	0.83[ASN][1000 genomes]
rs12294934	0.93[CHD][hapmap]
rs12295206	0.93[CHD][hapmap]
rs12420040	0.82[ASN][1000 genomes]
rs17132495	0.93[CHD][hapmap]
rs1976139	0.91[ASN][1000 genomes]
rs2067913	0.93[CHD][hapmap]
rs3741138	0.82[ASN][1000 genomes]
rs3741139	0.93[CHD][hapmap]
rs694103	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935985	0.93[CHD][hapmap]
rs935988	0.93[CHD][hapmap]

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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs637028	PAAF1	cis	lymphoblastoid	seeQTL
rs637028	C11orf59	cis	parietal	SCAN
rs637028	MRPL48	cis	parietal	SCAN
rs637028	OMP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73639400-73668000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:73640800-73667000	Weak transcription	Pancreas	Pancrea
3	chr11:73641400-73672200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:73650200-73666800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:73650200-73667000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:73657600-73662000	Weak transcription	Brain Anterior Caudate	brain
7	chr11:73658200-73662000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:73658600-73662000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:73660200-73660600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:73660200-73660800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:73660200-73660800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:73660400-73661000	Weak transcription	HepG2	liver

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