Variant report

Variant	rs2293808
Chromosome Location	chr8:90769356-90769357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 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	MAFK	chr8:90768715-90769375	K562	blood:	n/a	n/a
3	POLR2A	chr8:90769209-90770854	PBDE	blood:	n/a	n/a
4	POLR2A	chr8:90769001-90770884	K562	blood:	n/a	n/a
5	NR2F2	chr8:90769175-90771005	MCF-7	breast:	n/a	n/a
6	POLR2A	chr8:90769346-90770635	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr8:90769222-90770425	GM12878	blood:	n/a	chr8:90769982-90769995
8	STAT1	chr8:90769320-90769417	GM12878	blood:	n/a	n/a
9	RCOR1	chr8:90768902-90770938	K562	blood:	n/a	n/a
10	POLR2A	chr8:90769336-90770475	K562	blood:	n/a	n/a
11	ZEB1	chr8:90769121-90770896	HepG2	liver:	n/a	n/a
12	POLR2A	chr8:90769324-90770598	PFSK-1	brain:	n/a	n/a
13	MAZ	chr8:90769036-90771066	IMR90	lung:	n/a	chr8:90770116-90770125
14	POLR2A	chr8:90769208-90770697	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:90769099-90770802	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr8:90769162-90770929	Raji	blood:	n/a	n/a
17	POLR2A	chr8:90769279-90770533	GM12891	blood:	n/a	n/a
18	POLR2A	chr8:90769225-90770579	GM12892	blood:	n/a	n/a
19	ZEB1	chr8:90769256-90770683	GM12878	blood:	n/a	n/a
20	SIN3A	chr8:90769337-90771049	H1-hESC	embryonic stem cell:	n/a	n/a
21	HDAC2	chr8:90769215-90770883	MCF-7	breast:	n/a	chr8:90770710-90770724 chr8:90770836-90770845
22	POLR2A	chr8:90769117-90770521	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr8:90769075-90770922	HepG2	liver:	n/a	n/a
24	POLR2A	chr8:90769329-90770466	HepG2	liver:	n/a	n/a
25	RCOR1	chr8:90769291-90770186	GM12878	blood:	n/a	n/a
26	POLR2A	chr8:90769352-90770378	GM12878	blood:	n/a	n/a
27	EP300	chr8:90768993-90770327	K562	blood:	n/a	n/a
28	POLR2A	chr8:90769293-90770767	K562	blood:	n/a	n/a
29	TEAD4	chr8:90769333-90770491	ECC-1	luminal epithelium:	n/a	n/a
30	PML	chr8:90769201-90770819	MCF-7	breast:	n/a	chr8:90770656-90770664
31	POLR2A	chr8:90769209-90770344	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:90769203-90770762	GM18505	blood:	n/a	n/a
33	TAF1	chr8:90769239-90770788	MCF-7	breast:	n/a	n/a
34	MAX	chr8:90769270-90770928	MCF-7	breast:	n/a	chr8:90770116-90770125
35	POLR2A	chr8:90769175-90770419	GM12892	blood:	n/a	n/a
36	MAX	chr8:90769312-90770673	HepG2	liver:	n/a	chr8:90770116-90770125
37	MAX	chr8:90769322-90770535	GM12878	blood:	n/a	chr8:90770116-90770125
38	POLR2A	chr8:90769350-90770490	K562	blood:	n/a	n/a
39	RCOR1	chr8:90769016-90770229	K562	blood:	n/a	n/a
40	POLR2A	chr8:90769297-90770327	SK-N-MC	brain:	n/a	n/a
41	GABPA	chr8:90769308-90770130	HL-60	blood:	n/a	n/a
42	POLR2A	chr8:90768775-90770946	IMR90	lung:	n/a	n/a
43	POLR2A	chr8:90769341-90770725	MCF-7	breast:	n/a	n/a
44	RFX5	chr8:90768982-90770906	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr8:90769038-90770798	GM12891	blood:	n/a	n/a
46	JUN	chr8:90769291-90770156	K562	blood:	n/a	n/a
47	TEAD4	chr8:90769066-90769954	K562	blood:	n/a	n/a
48	POLR2A	chr8:90769313-90770793	K562	blood:	n/a	n/a
49	POLR2A	chr8:90769353-90770351	HEK293	kidney:	n/a	n/a
50	POLR2A	chr8:90768858-90771770	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:202645504..202647733-chr8:90769279..90771454,2	MCF-7	breast:
2	chr8:90766999..90771986-chr8:90912842..90916534,13	MCF-7	breast:
3	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
4	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
5	chr19:5903489..5904360-chr8:90769343..90769926,2	NB4	blood:
6	chr8:90733158..90736113-chr8:90768378..90769934,2	K562	blood:
7	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
8	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
9	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
10	chr8:90768498..90770140-chr8:90791646..90793949,2	MCF-7	breast:
11	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NBN-1	chr8:90769273-90769939	ENSG00000251136
2	lnc-NBN-1	chr8:90769273-90769592	ENSG00000251136
3	lnc-NBN-1	chr8:90769273-90769955	ENSG00000251136
4	lnc-NBN-1	chr8:90769273-90769946	NONHSAT127610
5	lnc-NBN-1	chr8:90769273-90769955	ENSG00000251136.4

No data

Variant related genes	Relation type
RIPK2	TF binding region
ENSG00000104312	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000267740	Chromatin interaction
ENSG00000003393	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000174886	Chromatin interaction
ENSG00000251136	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];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11984756	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988253	0.83[AMR][1000 genomes]
rs11988552	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11995005	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];0.94[ASN][1000 genomes]
rs12540972	0.85[EUR][1000 genomes]
rs12542577	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16893139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[ASN][1000 genomes]
rs2293809	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	0.90[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:124 , 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	chr8:90767800-90769600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:90768000-90771000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:90768000-90771400	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr8:90768000-90771800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr8:90768000-90771800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr8:90768200-90770200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:90768200-90771800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:90768400-90769400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:90768400-90769400	Weak transcription	Spleen	Spleen
19	chr8:90768400-90770000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:90768400-90770200	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr8:90768400-90771400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:90768400-90771600	Active TSS	Stomach Smooth Muscle	stomach
23	chr8:90768400-90771800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:90768400-90771800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:90768400-90772000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr8:90768600-90769400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr8:90768600-90769400	Weak transcription	Gastric	stomach
28	chr8:90768600-90769600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:90768600-90769600	Active TSS	Right Atrium	heart
30	chr8:90768600-90771000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:90768600-90771200	Active TSS	Brain Hippocampus Middle	brain
32	chr8:90768800-90769400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:90768800-90769400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:90768800-90769400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr8:90768800-90769400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:90768800-90769400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr8:90768800-90769400	Flanking Active TSS	Fetal Lung	lung
38	chr8:90768800-90769400	Weak transcription	Lung	lung
39	chr8:90768800-90769400	Flanking Active TSS	Hela-S3	cervix
40	chr8:90768800-90769600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:90768800-90769600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:90768800-90769600	Flanking Active TSS	HUVEC	blood vessel
43	chr8:90768800-90769600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr8:90768800-90770400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:90768800-90770600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:90768800-90770600	Active TSS	Fetal Muscle Leg	muscle
47	chr8:90768800-90770800	ZNF genes & repeats	Fetal Brain Male	brain
48	chr8:90768800-90770800	Active TSS	Fetal Intestine Large	intestine
49	chr8:90768800-90771200	Active TSS	Fetal Stomach	stomach
50	chr8:90768800-90771200	Active TSS	Rectal Smooth Muscle	rectum

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