Variant report

Variant	rs28413906
Chromosome Location	chr8:92081925-92081926
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:162)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:162 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr8:92081785-92082987	ECC-1	luminal epithelium:	n/a	n/a
2	BRCA1	chr8:92081746-92082737	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr8:92081860-92082010	HMF	breast:	n/a	n/a
4	POLR2A	chr8:92076295-92082821	K562	blood:	n/a	n/a
5	POLR2A	chr8:92081835-92082668	HUVEC	blood vessel:	n/a	n/a
6	RELA	chr8:92081783-92082903	GM19099	blood:	n/a	n/a
7	POLR2A	chr8:92081847-92082886	HepG2	liver:	n/a	n/a
8	TBL1XR1	chr8:92081465-92082852	K562	blood:	n/a	n/a
9	IRF1	chr8:92081904-92082879	K562	blood:	n/a	chr8:92082390-92082404 chr8:92082492-92082506 chr8:92082705-92082714
10	POLR2A	chr8:92081644-92082926	GM12878	blood:	n/a	n/a
11	ELK4	chr8:92081813-92082794	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr8:92081801-92082876	HepG2	liver:	n/a	n/a
13	CEBPB	chr8:92081726-92082881	Hela-S3	cervix:	n/a	n/a
14	MYBL2	chr8:92081920-92082864	HepG2	liver:	n/a	n/a
15	MTA3	chr8:92081814-92082424	GM12878	blood:	n/a	n/a
16	MAX	chr8:92081636-92083081	NB4	blood:	n/a	chr8:92082744-92082753
17	ZNF384	chr8:92081865-92083726	K562	blood:	n/a	n/a
18	PML	chr8:92081894-92082801	K562	blood:	n/a	n/a
19	POLR2A	chr8:92081645-92082867	HCT-116	colon:	n/a	n/a
20	TBP	chr8:92081516-92083027	K562	blood:	n/a	n/a
21	REST	chr8:92081653-92082847	HL-60	blood:	n/a	chr8:92082426-92082439 chr8:92082049-92082058
22	POLR2A	chr8:92081356-92083061	GM19099	blood:	n/a	n/a
23	IRF1	chr8:92081838-92082825	K562	blood:	n/a	chr8:92082390-92082404 chr8:92082492-92082506 chr8:92082705-92082714
24	CREB1	chr8:92081882-92082587	ECC-1	luminal epithelium:	n/a	n/a
25	ZC3H11A	chr8:92081737-92082794	K562	blood:	n/a	n/a
26	MAX	chr8:92081703-92083019	K562	blood:	n/a	chr8:92082744-92082753
27	EP300	chr8:92081640-92082705	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:92081720-92083123	K562	blood:	n/a	n/a
29	POLR2A	chr8:92081883-92082947	HUVEC	blood vessel:	n/a	n/a
30	MXI1	chr8:92081488-92083010	GM12878	blood:	n/a	n/a
31	TBL1XR1	chr8:92081430-92083425	K562	blood:	n/a	n/a
32	POLR2A	chr8:92081696-92082866	GM18951	blood:	n/a	n/a
33	ELF1	chr8:92081686-92081941	HepG2	liver:	n/a	chr8:92081861-92081874
34	MXI1	chr8:92081525-92083044	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr8:92081845-92082898	U87	brain:	n/a	n/a
36	PML	chr8:92081864-92082781	K562	blood:	n/a	n/a
37	MYC	chr8:92081825-92083171	K562	blood:	n/a	chr8:92082744-92082753
38	ELK1	chr8:92081857-92082801	Hela-S3	cervix:	n/a	n/a
39	NFYB	chr8:92081814-92082688	Hela-S3	cervix:	n/a	n/a
40	TBP	chr8:92081769-92082785	Hela-S3	cervix:	n/a	n/a
41	CREB1	chr8:92081885-92082816	ECC-1	luminal epithelium:	n/a	n/a
42	CREB1	chr8:92081887-92082822	HepG2	liver:	n/a	n/a
43	MXI1	chr8:92081300-92083057	IMR90	lung:	n/a	n/a
44	POLR2A	chr8:92081748-92082998	Raji	blood:	n/a	n/a
45	SIN3AK20	chr8:92081526-92083276	MCF-7	breast:	n/a	n/a
46	POLR2A	chr8:92081661-92083092	K562	blood:	n/a	n/a
47	SIX5	chr8:92081813-92082712	A549	lung:	n/a	n/a
48	MAX	chr8:92081739-92083053	A549	lung:	n/a	chr8:92082744-92082753
49	RCOR1	chr8:92081863-92083347	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr8:92081819-92083573	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:91994788..91999054-chr8:92079277..92083347,7	K562	blood:
2	chr8:92050064..92053786-chr8:92080232..92083900,8	K562	blood:
3	chr8:92054183..92058700-chr8:92080091..92083007,4	K562	blood:
4	chr6:88299129..88299891-chr8:92081843..92082472,2	NB4	blood:
5	chr8:92049693..92055107-chr8:92080246..92084828,10	MCF-7	breast:
6	chr8:92055125..92057204-chr8:92081507..92083903,2	K562	blood:
7	chr8:91997210..91999385-chr8:92079989..92082119,2	MCF-7	breast:
8	chr10:38265633..38266136-chr8:92081808..92082671,2	NB4	blood:
9	chr8:92051581..92056124-chr8:92079748..92084488,10	MCF-7	breast:
10	chr8:92056146..92058956-chr8:92081154..92084293,3	MCF-7	breast:
11	chr8:91996381..92003775-chr8:92079147..92086022,11	K562	blood:
12	chr8:91982671..91984562-chr8:92080291..92082134,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTUD6B-2	chr8:92081807-92082050	NONHSAT127669

No data

Variant related genes	Relation type
OTUD6B	TF binding region
ENSG00000226447	Chromatin interaction
ENSG00000155099	Chromatin interaction
ENSG00000146282	Chromatin interaction
ENSG00000135336	Chromatin interaction
ENSG00000254219	Chromatin interaction
ENSG00000253250	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10086690	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10087080	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10087372	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10088008	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091010	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091041	1.00[AMR][1000 genomes]
rs10091616	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094656	1.00[AMR][1000 genomes]
rs10097509	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102397	0.84[AFR][1000 genomes]
rs10110426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10113205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113460	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10441532	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28398373	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28514810	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28552946	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28643423	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28667143	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28709398	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28710246	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3210518	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3808377	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57438891	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57609704	1.00[EUR][1000 genomes]
rs58052832	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61179686	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7005525	0.87[AMR][1000 genomes];1.00[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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92075600-92082200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:92080000-92083600	Active TSS	Right Atrium	heart
3	chr8:92080400-92083400	Active TSS	HMEC	breast
4	chr8:92080400-92083800	Active TSS	K562	blood
5	chr8:92080600-92082000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr8:92080600-92082600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:92080600-92084000	Active TSS	Psoas Muscle	Psoas
8	chr8:92080800-92083800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr8:92080800-92084000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:92081000-92083600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:92081000-92083600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:92081000-92083600	Active TSS	Fetal Intestine Large	intestine
13	chr8:92081000-92083800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:92081000-92083800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:92081000-92084000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:92081200-92082200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:92081200-92082800	Active TSS	Primary T cells fromperipheralblood	blood
18	chr8:92081200-92083200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:92081200-92083200	Active TSS	Colonic Mucosa	Colon
20	chr8:92081200-92083200	Active TSS	Fetal Muscle Leg	muscle
21	chr8:92081200-92083200	Active TSS	Fetal Thymus	thymus
22	chr8:92081200-92083200	Active TSS	Rectal Smooth Muscle	rectum
23	chr8:92081200-92083200	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr8:92081200-92083200	Active TSS	Thymus	Thymus
25	chr8:92081200-92083400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr8:92081200-92083400	Active TSS	Aorta	Aorta
27	chr8:92081200-92083400	Active TSS	Fetal Intestine Small	intestine
28	chr8:92081200-92083400	Active TSS	Ovary	ovary
29	chr8:92081200-92083400	Active TSS	GM12878-XiMat	blood
30	chr8:92081200-92083400	Active TSS	NHDF-Ad	bronchial
31	chr8:92081200-92083400	Active TSS	NHEK	skin
32	chr8:92081200-92083600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr8:92081200-92083600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:92081200-92083600	Active TSS	Muscle Satellite Cultured Cells	--
35	chr8:92081200-92083600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:92081200-92083600	Active TSS	Fetal Muscle Trunk	muscle
37	chr8:92081200-92083600	Active TSS	Fetal Stomach	stomach
38	chr8:92081200-92083600	Active TSS	Right Ventricle	heart
39	chr8:92081200-92083600	Active TSS	A549	lung
40	chr8:92081200-92083600	Active TSS	HSMMtube	muscle
41	chr8:92081200-92083800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr8:92081200-92084000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:92081200-92084000	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr8:92081400-92082200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr8:92081400-92082600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr8:92081400-92082600	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr8:92081400-92083000	Active TSS	Stomach Smooth Muscle	stomach
48	chr8:92081400-92083200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr8:92081400-92083200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:92081400-92083200	Active TSS	Brain Angular Gyrus	brain

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