Variant report

Variant	rs61515687
Chromosome Location	chr8:92082319-92082320
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:453)
CpG islands
(count:183)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	MAZ	chr8:92081966-92082965	Hela-S3	cervix:	n/a	chr8:92082744-92082753
3	POLR2A	chr8:92082178-92082706	A549	lung:	n/a	n/a
4	BRCA1	chr8:92081746-92082737	Hela-S3	cervix:	n/a	n/a
5	RCOR1	chr8:92082087-92082720	HepG2	liver:	n/a	n/a
6	PAX5	chr8:92082159-92082663	GM12878	blood:	n/a	chr8:92082424-92082433
7	SRF	chr8:92082195-92082348	GM12878	blood:	n/a	n/a
8	YY1	chr8:92082136-92082975	H1-hESC	embryonic stem cell:	n/a	chr8:92082383-92082394 chr8:92082913-92082922 chr8:92082916-92082925
9	YY1	chr8:92082113-92082466	HepG2	liver:	n/a	chr8:92082383-92082394
10	CTCF	chr8:92082220-92082370	HCPEpiC	choroid plexus:	n/a	n/a
11	PAX5	chr8:92082164-92082543	GM12892	blood:	n/a	chr8:92082424-92082433
12	SP2	chr8:92082213-92082555	K562	blood:	n/a	n/a
13	POLR2A	chr8:92076295-92082821	K562	blood:	n/a	n/a
14	POLR2A	chr8:92082048-92082765	ECC-1	luminal epithelium:	n/a	n/a
15	POU2F2	chr8:92082030-92082840	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:92082140-92082771	A549	lung:	n/a	n/a
17	CBX3	chr8:92082088-92082719	K562	blood:	n/a	n/a
18	POLR2A	chr8:92082010-92082817	K562	blood:	n/a	n/a
19	EP300	chr8:92082028-92082735	T-47D	breast:	n/a	n/a
20	POLR2A	chr8:92081835-92082668	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr8:92081971-92082832	K562	blood:	n/a	n/a
22	RELA	chr8:92081783-92082903	GM19099	blood:	n/a	n/a
23	CEBPB	chr8:92082088-92082435	H1-hESC	embryonic stem cell:	n/a	n/a
24	USF1	chr8:92082287-92082584	SK-N-SH_RA	brain:	n/a	n/a
25	POLR2A	chr8:92081847-92082886	HepG2	liver:	n/a	n/a
26	NFATC1	chr8:92082064-92082740	GM12878	blood:	n/a	n/a
27	POLR2A	chr8:92082083-92082787	HepG2	liver:	n/a	n/a
28	TBL1XR1	chr8:92081465-92082852	K562	blood:	n/a	n/a
29	IRF1	chr8:92081904-92082879	K562	blood:	n/a	chr8:92082390-92082404 chr8:92082492-92082506 chr8:92082705-92082714
30	MXI1	chr8:92082121-92082815	K562	blood:	n/a	n/a
31	FOS	chr8:92082138-92082524	MCF10A-Er-Src	breast:	n/a	chr8:92082390-92082399
32	POLR2A	chr8:92081644-92082926	GM12878	blood:	n/a	n/a
33	RUNX3	chr8:92082031-92082875	GM12878	blood:	n/a	n/a
34	TAF1	chr8:92082045-92082954	ECC-1	luminal epithelium:	n/a	n/a
35	HEY1	chr8:92081943-92082736	HepG2	liver:	n/a	chr8:92082382-92082397
36	NRF1	chr8:92082235-92082741	H1-hESC	embryonic stem cell:	n/a	chr8:92082423-92082434 chr8:92082420-92082434 chr8:92082422-92082433 chr8:92082423-92082432 chr8:92082423-92082437
37	BRCA1	chr8:92082153-92082685	HepG2	liver:	n/a	n/a
38	ELK4	chr8:92081813-92082794	Hela-S3	cervix:	n/a	n/a
39	ZNF143	chr8:92082002-92083040	K562	blood:	n/a	chr8:92082978-92082993
40	ELF1	chr8:92082120-92082626	HepG2	liver:	n/a	n/a
41	EP300	chr8:92082102-92082690	T-47D	breast:	n/a	n/a
42	TAF1	chr8:92081955-92083067	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr8:92082140-92082406	HepG2	liver:	n/a	n/a
44	CREB1	chr8:92081801-92082876	HepG2	liver:	n/a	n/a
45	JUND	chr8:92082174-92082797	A549	lung:	n/a	chr8:92082390-92082399
46	CEBPB	chr8:92082029-92082561	A549	lung:	n/a	n/a
47	POLR2A	chr8:92082085-92082800	HEK293	kidney:	n/a	n/a
48	POLR2A	chr8:92081943-92082863	GM12892	blood:	n/a	n/a
49	ATF3	chr8:92082165-92082434	H1-hESC	embryonic stem cell:	n/a	chr8:92082254-92082274 chr8:92082272-92082285
50	NRF1	chr8:92082112-92082632	K562	blood:	n/a	chr8:92082423-92082434 chr8:92082420-92082434 chr8:92082422-92082433 chr8:92082423-92082432 chr8:92082423-92082437

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:92082269-92082319	K562	blood:	n/a
2	chr8:92082300-92082350	GM12878	blood:	n/a
3	chr8:92082300-92082350	BE2_C	brain:	n/a
4	chr8:92082269-92082319	SK-N-SH_RA	brain:	n/a
5	chr8:92082300-92082350	NT2-D1	testis:	n/a
6	chr8:92082269-92082319	CMK	blood:	n/a
7	chr8:92082300-92082350	AG04450	lung:	fetal
8	chr8:92082269-92082319	Hepatocyte	liver:	n/a
9	chr8:92082300-92082350	PrEC	prostate:	n/a
10	chr8:92082300-92082350	RPTEC	kidney:	n/a
11	chr8:92082278-92082328	HIPEpiC	eye:	n/a
12	chr8:92082278-92082328	HCPEpiC	choroid plexus:	n/a
13	chr8:92082278-92082328	AG09319	gingival:	n/a
14	chr8:92082300-92082350	AoSMC	blood vessel:	n/a
15	chr8:92082300-92082350	HMEC	breast:	n/a
16	chr8:92082300-92082350	SK-N-SH	brain:	n/a
17	chr8:92082269-92082319	HRPEpiC	eye:	n/a
18	chr8:92082300-92082350	K562	blood:	n/a
19	chr8:92082278-92082328	AG04450	lung:	fetal
20	chr8:92082300-92082350	BJ	skin:	n/a
21	chr8:92082300-92082350	AG09319	gingival:	n/a
22	chr8:92082278-92082328	HEK293	kidney:	embryo
23	chr8:92082269-92082319	SAEC	small airway:	n/a
24	chr8:92082300-92082350	HIPEpiC	eye:	n/a
25	chr8:92082269-92082319	RPTEC	kidney:	n/a
26	chr8:92082300-92082350	LNCaP	prostate:	n/a
27	chr8:92082269-92082319	IMR90	lung:	fetal
28	chr8:92082300-92082350	HRCEpiC	kidney:	n/a
29	chr8:92082278-92082328	RPTEC	kidney:	n/a
30	chr8:92082269-92082319	GM12878	blood:	n/a
31	chr8:92082278-92082328	PFSK-1	brain:	n/a
32	chr8:92082300-92082350	NHDF-neo	bronchial:	n/a
33	chr8:92082300-92082350	IMR90	lung:	fetal
34	chr8:92082269-92082319	SKMC	muscle:	n/a
35	chr8:92082269-92082319	T-47D	breast:	n/a
36	chr8:92082300-92082350	HCM	heart:	n/a
37	chr8:92082278-92082328	HRCEpiC	kidney:	n/a
38	chr8:92082300-92082350	Hela-S3	cervix:	n/a
39	chr8:92082278-92082328	SK-N-MC	brain:	n/a
40	chr8:92082269-92082319	BE2_C	brain:	n/a
41	chr8:92082300-92082350	HCF	heart:	n/a
42	chr8:92082278-92082328	K562	blood:	n/a
43	chr8:92082300-92082350	CMK	blood:	n/a
44	chr8:92082278-92082328	NHDF-neo	bronchial:	n/a
45	chr8:92082300-92082350	HUVEC	blood vessel:	n/a
46	chr8:92082300-92082350	Jurkat	blood:	n/a
47	chr8:92082269-92082319	HCPEpiC	choroid plexus:	n/a
48	chr8:92082278-92082328	AG10803	skin:	n/a
49	chr8:92082269-92082319	HPAEpiC	pulmonary alveolar:	n/a
50	chr8:92082278-92082328	HCM	heart:	n/a

(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	chr8:91657088..91659265-chr8:92082267..92084187,3	K562	blood:
6	chr8:92049693..92055107-chr8:92080246..92084828,10	MCF-7	breast:
7	chr8:92055125..92057204-chr8:92081507..92083903,2	K562	blood:
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	chr12:122064227..122064936-chr8:92082306..92082989,2	Hela-S3	cervix:
12	chr8:91996381..92003775-chr8:92079147..92086022,11	K562	blood:

No data

Variant related genes	Relation type
OTUD6B	TF binding region
OTUD6B	CpG island
ENSG00000180694	Chromatin interaction
ENSG00000254219	Chromatin interaction
ENSG00000253250	Chromatin interaction
ENSG00000146282	Chromatin interaction
ENSG00000226447	Chromatin interaction
ENSG00000155099	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000135336	Chromatin interaction
ENSG00000246792	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11993219	0.89[AFR][1000 genomes]
rs28489455	1.00[AFR][1000 genomes]
rs56035719	0.93[AFR][1000 genomes]
rs56854299	0.83[AFR][1000 genomes]
rs59362647	0.83[AFR][1000 genomes]
rs73694350	1.00[AMR][1000 genomes]
rs73694359	0.90[AFR][1000 genomes]
rs73694360	0.89[AFR][1000 genomes]
rs73694366	0.89[AFR][1000 genomes]
rs73694368	0.95[AFR][1000 genomes]
rs73694369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694375	0.95[AFR][1000 genomes]
rs73694376	0.89[AFR][1000 genomes]
rs73694377	0.81[AFR][1000 genomes]
rs73694384	0.95[AFR][1000 genomes]
rs73694386	0.83[AFR][1000 genomes]
rs73694387	0.83[AFR][1000 genomes]
rs73694389	0.83[AFR][1000 genomes]
rs73697108	1.00[AFR][1000 genomes]
rs73697109	1.00[AFR][1000 genomes]
rs73697110	1.00[AFR][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:126 , 50 per page) page: 1 2 3

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

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