Variant report

Variant	rs7011479
Chromosome Location	chr8:87520252-87520253
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:87520160-87521531	Hela-S3	cervix:	n/a	n/a
2	RELA	chr8:87520143-87521319	GM19193	blood:	n/a	n/a
3	FOXM1	chr8:87520059-87521238	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:87520160-87521529	K562	blood:	n/a	n/a
5	HCFC1	chr8:87520075-87521517	Hela-S3	cervix:	n/a	n/a
6	HDAC2	chr8:87520085-87521417	MCF-7	breast:	n/a	n/a
7	JUND	chr8:87519797-87521508	K562	blood:	n/a	chr8:87520898-87520907
8	CTCF	chr8:87520220-87520370	AG09319	gingival:	n/a	n/a
9	SP1	chr8:87520214-87521349	A549	lung:	n/a	chr8:87520945-87520956 chr8:87520898-87520910 chr8:87520968-87520979 chr8:87520900-87520909 chr8:87521025-87521036 chr8:87520898-87520910 chr8:87520363-87520370 chr8:87520991-87521002
10	POLR2A	chr8:87520161-87521302	MCF-7	breast:	n/a	n/a
11	IRF1	chr8:87519931-87521496	K562	blood:	n/a	chr8:87521189-87521199 chr8:87520684-87520693 chr8:87521185-87521199 chr8:87520096-87520107
12	POLR2A	chr8:87520144-87521229	GM12891	blood:	n/a	n/a
13	SIN3AK20	chr8:87519881-87521582	MCF-7	breast:	n/a	n/a
14	RAD21	chr8:87520192-87521238	IMR90	lung:	n/a	n/a
15	NR2F2	chr8:87520155-87521239	K562	blood:	n/a	n/a
16	USF2	chr8:87520164-87520575	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:87520110-87521323	Raji	blood:	n/a	n/a
18	BCLAF1	chr8:87520045-87521274	GM12878	blood:	n/a	chr8:87521189-87521198
19	MXI1	chr8:87520034-87521488	GM12878	blood:	n/a	n/a
20	CHD2	chr8:87520147-87521309	GM12878	blood:	n/a	n/a
21	YY1	chr8:87520180-87521235	GM12878	blood:	n/a	n/a
22	TBP	chr8:87520237-87521422	GM12878	blood:	n/a	chr8:87520359-87520370
23	MAZ	chr8:87520248-87521312	K562	blood:	n/a	chr8:87520494-87520503
24	IRF1	chr8:87520109-87521640	K562	blood:	n/a	chr8:87521515-87521525 chr8:87521189-87521199 chr8:87521517-87521531 chr8:87521513-87521533 chr8:87520684-87520693 chr8:87521185-87521199 chr8:87521515-87521529
25	POLR2A	chr8:87520099-87521228	GM12891	blood:	n/a	n/a
26	MYC	chr8:87519942-87521186	K562	blood:	n/a	chr8:87520494-87520503
27	POLR2A	chr8:87520242-87521271	GM10847	blood:	n/a	n/a
28	CTCF	chr8:87520140-87520290	GM12873	blood:	n/a	n/a
29	CTCF	chr8:87520240-87520390	GM12868	blood:	n/a	n/a
30	POLR2A	chr8:87519805-87521867	GM12878	blood:	n/a	n/a
31	MAX	chr8:87520220-87521615	A549	lung:	n/a	chr8:87520494-87520503
32	HA-E2F1	chr8:87520245-87521499	MCF-7	breast:	n/a	chr8:87521071-87521080 chr8:87520939-87520948 chr8:87520899-87520908
33	ATF2	chr8:87520045-87520724	GM12878	blood:	n/a	n/a
34	SMC3	chr8:87520230-87521367	Hela-S3	cervix:	n/a	n/a
35	MAX	chr8:87520032-87521578	HCT-116	colon:	n/a	chr8:87520494-87520503
36	TBL1XR1	chr8:87520171-87521308	GM12878	blood:	n/a	n/a
37	TEAD4	chr8:87520151-87521220	K562	blood:	n/a	chr8:87520619-87520628
38	POLR2A	chr8:87520045-87521355	GM12878	blood:	n/a	n/a
39	FOXM1	chr8:87520233-87521330	GM12878	blood:	n/a	n/a
40	POLR2A	chr8:87520203-87521271	HepG2	liver:	n/a	n/a
41	POU2F2	chr8:87520213-87521136	GM12878	blood:	n/a	n/a
42	POLR2A	chr8:87519958-87521293	K562	blood:	n/a	n/a
43	CREB1	chr8:87520238-87521263	HepG2	liver:	n/a	n/a
44	MTA3	chr8:87520049-87521362	GM12878	blood:	n/a	n/a
45	POLR2A	chr8:87519990-87521477	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr8:87520231-87521282	PFSK-1	brain:	n/a	n/a
47	RELA	chr8:87520193-87521286	GM15510	blood:	n/a	n/a
48	POLR2A	chr8:87520072-87521307	GM18526	blood:	n/a	n/a
49	POLR2A	chr8:87519866-87521332	GM12878	blood:	n/a	n/a
50	ATF2	chr8:87520181-87521273	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:61101688..61103603-chr8:87519693..87522551,2	MCF-7	breast:
2	chr8:87487270..87490849-chr8:87519324..87522121,4	K562	blood:
3	chr8:87355027..87357482-chr8:87519258..87521837,2	K562	blood:
4	chr8:87486012..87489459-chr8:87519417..87522118,5	MCF-7	breast:
5	chr17:56735220..56736743-chr8:87519263..87521949,2	MCF-7	breast:
6	chr8:87518953..87524236-chr8:87524519..87528376,7	K562	blood:
7	chr8:87492324..87497991-chr8:87518822..87522169,6	MCF-7	breast:
8	chr8:87469631..87472468-chr8:87519307..87520867,2	MCF-7	breast:
9	chr8:87495583..87497504-chr8:87520238..87522113,2	K562	blood:
10	chr8:87498873..87500941-chr8:87519267..87521705,2	K562	blood:
11	chr8:87519046..87522405-chr8:87523698..87528376,9	K562	blood:
12	chr8:86130748..86132685-chr8:87519056..87520763,2	K562	blood:
13	chr8:87488182..87492141-chr8:87519043..87522163,5	K562	blood:

Variant related genes	Relation type
RMDN1	TF binding region
ENSG00000202077	Chromatin interaction
ENSG00000149476	Chromatin interaction
ENSG00000123124	Chromatin interaction
ENSG00000085719	Chromatin interaction
ENSG00000254231	Chromatin interaction
ENSG00000176731	Chromatin interaction
ENSG00000176623	Chromatin interaction
ENSG00000250569	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10096815	0.91[ASN][1000 genomes]
rs10481198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs28646897	0.94[ASN][1000 genomes]
rs34195357	0.88[ASN][1000 genomes]
rs4961192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6471361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996318	0.91[ASN][1000 genomes]
rs7839863	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87517400-87520400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:87519000-87520400	Weak transcription	Gastric	stomach
3	chr8:87519400-87520400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:87519400-87520400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:87519400-87520600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:87519400-87521200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:87519400-87521200	Active TSS	GM12878-XiMat	blood
8	chr8:87519400-87521200	Active TSS	K562	blood
9	chr8:87519400-87521200	Active TSS	NH-A	brain
10	chr8:87519400-87521600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:87519600-87520400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:87519600-87520800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr8:87519600-87521200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:87519600-87521200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:87519600-87521200	Active TSS	Rectal Smooth Muscle	rectum
16	chr8:87519600-87521200	Active TSS	Hela-S3	cervix
17	chr8:87519600-87521200	Active TSS	HepG2	liver
18	chr8:87519600-87521200	Active TSS	NHDF-Ad	bronchial
19	chr8:87519600-87521400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr8:87519600-87521400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:87519600-87521400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:87519600-87521400	Active TSS	Fetal Intestine Large	intestine
23	chr8:87519600-87521400	Active TSS	A549	lung
24	chr8:87519600-87521400	Active TSS	NHLF	lung
25	chr8:87519600-87521600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr8:87519600-87521600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:87519600-87521600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:87519600-87521600	Active TSS	HSMM	muscle
29	chr8:87519600-87521600	Active TSS	NHEK	skin
30	chr8:87519600-87521800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:87519600-87521800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:87519800-87520400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr8:87519800-87520400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:87519800-87520400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr8:87519800-87520400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr8:87519800-87520400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr8:87519800-87520600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr8:87519800-87521200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:87519800-87521200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:87519800-87521200	Active TSS	Thymus	Thymus
41	chr8:87519800-87521200	Active TSS	HMEC	breast
42	chr8:87519800-87521400	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr8:87519800-87521400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr8:87519800-87521400	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr8:87519800-87521400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:87519800-87521400	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr8:87519800-87521400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:87519800-87521600	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr8:87519800-87521600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:87519800-87521600	Active TSS	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links