Variant report

Variant	rs2293809
Chromosome Location	chr8:90770315-90770316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:320)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:320 , 50 per page) page: 1 2 3 4 5 6 7

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	SIN3AK20	chr8:90769600-90770502	SK-N-SH	brain:	n/a	n/a
3	ELF1	chr8:90769844-90770390	HepG2	liver:	n/a	n/a
4	MYC	chr8:90769401-90770867	NB4	blood:	n/a	chr8:90770116-90770125
5	IRF1	chr8:90769363-90770318	K562	blood:	n/a	n/a
6	POLR2A	chr8:90769209-90770854	PBDE	blood:	n/a	n/a
7	POLR2A	chr8:90769421-90770690	A549	lung:	n/a	n/a
8	CEBPB	chr8:90769436-90770503	HepG2	liver:	n/a	n/a
9	CREB1	chr8:90769365-90770675	HepG2	liver:	n/a	n/a
10	POLR2A	chr8:90769001-90770884	K562	blood:	n/a	n/a
11	NR2F2	chr8:90769175-90771005	MCF-7	breast:	n/a	n/a
12	POLR2A	chr8:90769346-90770635	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr8:90769553-90770608	A549	lung:	n/a	chr8:90769965-90769978
14	BCLAF1	chr8:90769222-90770425	GM12878	blood:	n/a	chr8:90769982-90769995
15	MAX	chr8:90769727-90770360	K562	blood:	n/a	chr8:90770116-90770125
16	MYC	chr8:90769465-90770921	K562	blood:	n/a	chr8:90770116-90770125
17	POLR2A	chr8:90769392-90770747	NB4	blood:	n/a	n/a
18	RCOR1	chr8:90768902-90770938	K562	blood:	n/a	n/a
19	GTF2B	chr8:90769701-90770468	K562	blood:	n/a	n/a
20	POLR2A	chr8:90769417-90770381	HUVEC	blood vessel:	n/a	n/a
21	SPI1	chr8:90769739-90770364	HL-60	blood:	n/a	chr8:90770034-90770041
22	TAF1	chr8:90769592-90770665	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr8:90769336-90770475	K562	blood:	n/a	n/a
24	ZEB1	chr8:90769121-90770896	HepG2	liver:	n/a	n/a
25	POLR2A	chr8:90769324-90770598	PFSK-1	brain:	n/a	n/a
26	MYC	chr8:90769710-90770632	MCF-7	breast:	n/a	chr8:90770116-90770125
27	YY1	chr8:90769686-90770643	HCT-116	colon:	n/a	chr8:90770536-90770555 chr8:90770110-90770121
28	YY1	chr8:90769754-90770427	K562	blood:	n/a	chr8:90770110-90770121
29	EP300	chr8:90769773-90770551	T-47D	breast:	n/a	n/a
30	MXI1	chr8:90769923-90770789	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF217	chr8:90769883-90770705	MCF-7	breast:	n/a	n/a
32	MAZ	chr8:90769036-90771066	IMR90	lung:	n/a	chr8:90770116-90770125
33	MAX	chr8:90769507-90770546	HepG2	liver:	n/a	chr8:90770116-90770125
34	POLR2A	chr8:90769674-90770546	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr8:90769208-90770697	GM12878	blood:	n/a	n/a
36	POLR2A	chr8:90769099-90770802	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr8:90769162-90770929	Raji	blood:	n/a	n/a
38	POLR2A	chr8:90769279-90770533	GM12891	blood:	n/a	n/a
39	POLR2A	chr8:90769225-90770579	GM12892	blood:	n/a	n/a
40	PAX5	chr8:90769747-90770514	GM12892	blood:	n/a	n/a
41	ELK4	chr8:90770131-90770340	Hela-S3	cervix:	n/a	n/a
42	MAFK	chr8:90770074-90770725	Hela-S3	cervix:	n/a	n/a
43	ZEB1	chr8:90769256-90770683	GM12878	blood:	n/a	n/a
44	MAX	chr8:90769739-90770744	K562	blood:	n/a	chr8:90770116-90770125
45	SIN3A	chr8:90769337-90771049	H1-hESC	embryonic stem cell:	n/a	n/a
46	HDAC2	chr8:90769215-90770883	MCF-7	breast:	n/a	chr8:90770710-90770724 chr8:90770836-90770845
47	HDAC2	chr8:90769778-90770454	K562	blood:	n/a	n/a
48	ELK1	chr8:90769531-90770385	Hela-S3	cervix:	n/a	n/a
49	HA-E2F1	chr8:90769720-90770582	Hela-S3	cervix:	n/a	n/a
50	TCF12	chr8:90769712-90770668	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:19 , 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	chr11:74459753..74460566-chr8:90769681..90770600,2	Hela-S3	cervix:
9	chr1:149858463..149859462-chr8:90769692..90770367,2	HCT-116	colon:
10	chr5:170814542..170815123-chr8:90769919..90770441,2	HCT-116	colon:
11	chr8:90769811..90771678-chr8:91656094..91659219,3	MCF-7	breast:
12	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
13	chr8:90770081..90772255-chr8:90988919..90991592,2	MCF-7	breast:
14	chr2:70475437..70475988-chr8:90769577..90770413,2	HCT-116	colon:
15	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
16	chr7:77165873..77166847-chr8:90769647..90770490,2	Hela-S3	cervix:
17	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
18	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:
19	chr11:62608642..62609306-chr8:90769761..90770422,2	HCT-116	colon:

No data

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000180694	Chromatin interaction
ENSG00000116001	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000127947	Chromatin interaction
ENSG00000166439	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000181163	Chromatin interaction
ENSG00000115998	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000003393	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10956271	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11984756	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988253	0.83[AMR][1000 genomes]
rs11988552	0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11995005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12540972	0.85[EUR][1000 genomes]
rs12542577	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16893139	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2293808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39766	0.82[CHB][hapmap]
rs40380	0.82[CHB][hapmap]
rs40454	0.82[CHB][hapmap]
rs42480	0.82[CHB][hapmap]
rs719324	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7834416	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][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	chr8:90768800-90770400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:90768800-90770600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:90768800-90770600	Active TSS	Fetal Muscle Leg	muscle
25	chr8:90768800-90770800	ZNF genes & repeats	Fetal Brain Male	brain
26	chr8:90768800-90770800	Active TSS	Fetal Intestine Large	intestine
27	chr8:90768800-90771200	Active TSS	Fetal Stomach	stomach
28	chr8:90768800-90771200	Active TSS	Rectal Smooth Muscle	rectum
29	chr8:90768800-90771400	Active TSS	Colon Smooth Muscle	Colon
30	chr8:90768800-90771400	Active TSS	HMEC	breast
31	chr8:90768800-90771600	Active TSS	Placenta	Placenta
32	chr8:90768800-90771600	Active TSS	NHDF-Ad	bronchial
33	chr8:90768800-90771800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:90768800-90771800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr8:90768800-90772000	Active TSS	Aorta	Aorta
36	chr8:90768800-90772000	Active TSS	HSMMtube	muscle
37	chr8:90768800-90772400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:90769000-90770400	Active TSS	Primary T cells from cord blood	blood
39	chr8:90769000-90770600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:90769000-90770600	Active TSS	Fetal Intestine Small	intestine
41	chr8:90769000-90770800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:90769000-90771000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:90769000-90771000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:90769000-90771200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:90769000-90771200	Active TSS	Placenta Amnion	Placenta Amnion
46	chr8:90769000-90771600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr8:90769000-90771600	Active TSS	Ovary	ovary
48	chr8:90769000-90771600	Active TSS	Right Ventricle	heart
49	chr8:90769000-90771600	Active TSS	Stomach Mucosa	stomach
50	chr8:90769000-90771800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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