Variant report

Variant	rs43133
Chromosome Location	chr8:90770669-90770670
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:151)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:151 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:90768781-90771950	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr8:90769401-90770867	NB4	blood:	n/a	chr8:90770116-90770125
3	POLR2A	chr8:90769209-90770854	PBDE	blood:	n/a	n/a
4	POLR2A	chr8:90769421-90770690	A549	lung:	n/a	n/a
5	CREB1	chr8:90769365-90770675	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:90769001-90770884	K562	blood:	n/a	n/a
7	NR2F2	chr8:90769175-90771005	MCF-7	breast:	n/a	n/a
8	MYC	chr8:90769465-90770921	K562	blood:	n/a	chr8:90770116-90770125
9	POLR2A	chr8:90769392-90770747	NB4	blood:	n/a	n/a
10	RCOR1	chr8:90768902-90770938	K562	blood:	n/a	n/a
11	ZEB1	chr8:90769121-90770896	HepG2	liver:	n/a	n/a
12	MAFK	chr8:90770400-90770722	K562	blood:	n/a	n/a
13	MXI1	chr8:90769923-90770789	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF217	chr8:90769883-90770705	MCF-7	breast:	n/a	n/a
15	MAZ	chr8:90769036-90771066	IMR90	lung:	n/a	chr8:90770116-90770125
16	POLR2A	chr8:90769208-90770697	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:90769099-90770802	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr8:90769162-90770929	Raji	blood:	n/a	n/a
19	POLR2A	chr8:90770587-90770718	K562	blood:	n/a	n/a
20	MAFK	chr8:90770074-90770725	Hela-S3	cervix:	n/a	n/a
21	ZEB1	chr8:90769256-90770683	GM12878	blood:	n/a	n/a
22	MAX	chr8:90769739-90770744	K562	blood:	n/a	chr8:90770116-90770125
23	SIN3A	chr8:90769337-90771049	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr8:90770620-90770770	HCPEpiC	choroid plexus:	n/a	n/a
25	HDAC2	chr8:90769215-90770883	MCF-7	breast:	n/a	chr8:90770710-90770724 chr8:90770836-90770845
26	EBF1	chr8:90769878-90770766	GM12878	blood:	n/a	n/a
27	POLR2A	chr8:90769075-90770922	HepG2	liver:	n/a	n/a
28	POLR2A	chr8:90769293-90770767	K562	blood:	n/a	n/a
29	PML	chr8:90769201-90770819	MCF-7	breast:	n/a	chr8:90770656-90770664
30	POLR2A	chr8:90769203-90770762	GM18505	blood:	n/a	n/a
31	MAX	chr8:90769641-90770776	ECC-1	luminal epithelium:	n/a	chr8:90770116-90770125
32	TAF1	chr8:90769239-90770788	MCF-7	breast:	n/a	n/a
33	MAX	chr8:90769270-90770928	MCF-7	breast:	n/a	chr8:90770116-90770125
34	MAX	chr8:90769312-90770673	HepG2	liver:	n/a	chr8:90770116-90770125
35	SMC3	chr8:90770462-90770856	GM12878	blood:	n/a	n/a
36	ZNF263	chr8:90769545-90770857	K562	blood:	n/a	chr8:90769969-90769978
37	CBX3	chr8:90769747-90770708	K562	blood:	n/a	n/a
38	POLR2A	chr8:90769436-90770701	MCF-7	breast:	n/a	n/a
39	MXI1	chr8:90769669-90770925	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr8:90769487-90770864	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr8:90769390-90770726	Hela-S3	cervix:	n/a	n/a
42	CTBP2	chr8:90769398-90770865	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr8:90768775-90770946	IMR90	lung:	n/a	n/a
44	POLR2A	chr8:90769341-90770725	MCF-7	breast:	n/a	n/a
45	RFX5	chr8:90768982-90770906	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr8:90769038-90770798	GM12891	blood:	n/a	n/a
47	POLR2A	chr8:90769313-90770793	K562	blood:	n/a	n/a
48	CTCF	chr8:90770640-90770790	RPTEC	kidney:	n/a	n/a
49	KAP1	chr8:90769613-90770885	HEK293	kidney:	n/a	chr8:90770656-90770664
50	POLR2A	chr8:90768858-90771770	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90770120..90773332-chr8:90778069..90782721,6	K562	blood:
2	chr2:202645504..202647733-chr8:90769279..90771454,2	MCF-7	breast:
3	chr8:90766999..90771986-chr8:90912842..90916534,13	MCF-7	breast:
4	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
5	chr8:90769588..90771314-chr8:90995090..90996692,2	K562	blood:
6	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
7	chr8:90770153..90772840-chr8:91007393..91009503,2	K562	blood:
8	chr6:27099899..27102052-chr8:90770515..90773024,2	MCF-7	breast:
9	chr8:90769811..90771678-chr8:91656094..91659219,3	MCF-7	breast:
10	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
11	chr8:90770081..90772255-chr8:90988919..90991592,2	MCF-7	breast:
12	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
13	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
14	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000207359	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000003393	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000180694	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12156013	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13254219	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13274635	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs218935	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs218938	0.89[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs369771	0.80[CEU][hapmap]
rs383592	0.82[CEU][hapmap]
rs394108	0.80[CEU][hapmap]
rs39501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39508	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39509	0.80[CEU][hapmap]
rs39511	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39512	0.86[EUR][1000 genomes]
rs39515	0.80[CEU][hapmap]
rs397540	0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39763	0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39766	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs398701	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40248	0.83[EUR][1000 genomes]
rs40378	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40379	0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40380	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs40454	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs40635	0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs406680	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs411310	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs416324	0.82[CEU][hapmap]
rs42343	0.90[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs42479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42480	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs425721	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs426779	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs428484	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs434264	0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs450332	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs51331	0.80[CEU][hapmap]
rs7815039	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 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	chr8:90765400-90771600	Active TSS	GM12878-XiMat	blood
2	chr8:90766200-90772400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:90766400-90771400	Active TSS	K562	blood
4	chr8:90766600-90771200	Active TSS	NHLF	lung
5	chr8:90766800-90771800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:90767000-90771200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:90767400-90771200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr8:90767600-90771200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:90767600-90771200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:90768000-90771000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:90768000-90771400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr8:90768000-90771800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr8:90768000-90771800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:90768200-90771800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr8:90768400-90771400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr8:90768400-90771600	Active TSS	Stomach Smooth Muscle	stomach
17	chr8:90768400-90771800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:90768400-90771800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:90768400-90772000	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr8:90768600-90771000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:90768600-90771200	Active TSS	Brain Hippocampus Middle	brain
22	chr8:90768800-90770800	ZNF genes & repeats	Fetal Brain Male	brain
23	chr8:90768800-90770800	Active TSS	Fetal Intestine Large	intestine
24	chr8:90768800-90771200	Active TSS	Fetal Stomach	stomach
25	chr8:90768800-90771200	Active TSS	Rectal Smooth Muscle	rectum
26	chr8:90768800-90771400	Active TSS	Colon Smooth Muscle	Colon
27	chr8:90768800-90771400	Active TSS	HMEC	breast
28	chr8:90768800-90771600	Active TSS	Placenta	Placenta
29	chr8:90768800-90771600	Active TSS	NHDF-Ad	bronchial
30	chr8:90768800-90771800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:90768800-90771800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr8:90768800-90772000	Active TSS	Aorta	Aorta
33	chr8:90768800-90772000	Active TSS	HSMMtube	muscle
34	chr8:90768800-90772400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:90769000-90770800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:90769000-90771000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:90769000-90771000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:90769000-90771200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:90769000-90771200	Active TSS	Placenta Amnion	Placenta Amnion
40	chr8:90769000-90771600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr8:90769000-90771600	Active TSS	Ovary	ovary
42	chr8:90769000-90771600	Active TSS	Right Ventricle	heart
43	chr8:90769000-90771600	Active TSS	Stomach Mucosa	stomach
44	chr8:90769000-90771800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:90769000-90771800	Active TSS	Colonic Mucosa	Colon
46	chr8:90769000-90771800	Active TSS	HSMM	muscle
47	chr8:90769000-90772000	Active TSS	Fetal Muscle Trunk	muscle
48	chr8:90769000-90772000	Active TSS	Thymus	Thymus
49	chr8:90769000-90772400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:90769200-90771000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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