Variant report

Variant	rs72982956
Chromosome Location	chr11:73661251-73661252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr11:73661052-73661315	IMR90	lung:	n/a	chr11:73661148-73661163
2	MAFK	chr11:73661048-73661310	HepG2	liver:	n/a	chr11:73661148-73661163
3	MAFK	chr11:73661017-73661335	HepG2	liver:	n/a	chr11:73661148-73661163
4	MAFF	chr11:73661087-73661278	K562	blood:	n/a	n/a
5	MAFF	chr11:73661015-73661324	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:73661076-73661264	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73661250-73661300	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:73661229-73661279	T-47D	breast:	n/a
3	chr11:73661250-73661300	T-47D	breast:	n/a
4	chr11:73661229-73661279	HRPEpiC	eye:	n/a
5	chr11:73661250-73661300	NH-A	brain:	n/a
6	chr11:73661250-73661300	NB4	blood:	n/a
7	chr11:73661250-73661300	HNPCEpiC	eye:	n/a
8	chr11:73661229-73661279	HMEC	breast:	n/a
9	chr11:73661250-73661300	NHDF-neo	bronchial:	n/a
10	chr11:73661229-73661279	PrEC	prostate:	n/a
11	chr11:73661229-73661279	AG04449	skin:	fetal
12	chr11:73661250-73661300	HL-60	blood:	n/a
13	chr11:73661250-73661300	HCPEpiC	choroid plexus:	n/a
14	chr11:73661229-73661279	SAEC	small airway:	n/a
15	chr11:73661250-73661300	GM12891	blood:	n/a
16	chr11:73661250-73661300	AG04449	skin:	fetal
17	chr11:73661250-73661300	HAEpiC	amniotic membrane:	n/a
18	chr11:73661229-73661279	BE2_C	brain:	n/a
19	chr11:73661250-73661300	CMK	blood:	n/a
20	chr11:73661229-73661279	Hepatocyte	liver:	n/a
21	chr11:73661229-73661279	ovcar-3	ovarian:	n/a
22	chr11:73661229-73661279	AG10803	skin:	n/a
23	chr11:73661229-73661279	HNPCEpiC	eye:	n/a
24	chr11:73661229-73661279	GM06990	blood:	n/a
25	chr11:73661229-73661279	HCF	heart:	n/a
26	chr11:73661229-73661279	HCPEpiC	choroid plexus:	n/a
27	chr11:73661229-73661279	ProgFib	skin:	n/a
28	chr11:73661229-73661279	AG09319	gingival:	n/a
29	chr11:73661229-73661279	SK-N-MC	brain:	n/a
30	chr11:73661229-73661279	AoSMC	blood vessel:	n/a
31	chr11:73661250-73661300	HRPEpiC	eye:	n/a
32	chr11:73661250-73661300	PrEC	prostate:	n/a
33	chr11:73661229-73661279	Hela-S3	cervix:	n/a
34	chr11:73661229-73661279	HepG2	liver:	n/a
35	chr11:73661250-73661300	AG09309	skin:	n/a
36	chr11:73661250-73661300	BJ	skin:	n/a
37	chr11:73661229-73661279	AG04450	lung:	fetal
38	chr11:73661250-73661300	IMR90	lung:	fetal
39	chr11:73661229-73661279	PANC-1	pancreas:	n/a
40	chr11:73661250-73661300	HRCEpiC	kidney:	n/a
41	chr11:73661229-73661279	HL-60	blood:	n/a
42	chr11:73661229-73661279	SKMC	muscle:	n/a
43	chr11:73661229-73661279	SK-N-SH_RA	brain:	n/a
44	chr11:73661250-73661300	RPTEC	kidney:	n/a
45	chr11:73661250-73661300	U87	brain:	n/a
46	chr11:73661250-73661300	HMEC	breast:	n/a
47	chr11:73661250-73661300	NHBE	bronchial:	n/a
48	chr11:73661250-73661300	NT2-D1	testis:	n/a
49	chr11:73661229-73661279	GM12892	blood:	n/a
50	chr11:73661229-73661279	RPTEC	kidney:	n/a

No data

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11235911	0.83[EUR][1000 genomes]
rs11235918	0.83[EUR][1000 genomes]
rs11235928	0.84[EUR][1000 genomes]
rs11235950	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235951	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11534587	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758932	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3758933	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56307666	0.84[EUR][1000 genomes]
rs59187119	0.83[EUR][1000 genomes]
rs66465726	0.83[EUR][1000 genomes]
rs7104794	0.84[EUR][1000 genomes]
rs7130191	0.83[EUR][1000 genomes]
rs72982946	0.90[ASN][1000 genomes]
rs72982960	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72989263	0.83[EUR][1000 genomes]
rs7927396	0.92[EUR][1000 genomes]
rs7931143	0.84[EUR][1000 genomes]
rs9666440	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	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

No data

Chromatin state (count:11 , 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	chr11:73660600-73667000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:73660800-73662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:73661000-73661800	Enhancers	HepG2	liver

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