Variant report

Variant	rs13276227
Chromosome Location	chr8:96104617-96104618
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr8:96103329-96104622	GM12878	blood:	n/a	chr8:96103665-96103676
2	FOXM1	chr8:96103174-96104881	GM12878	blood:	n/a	n/a
3	PML	chr8:96101695-96104710	GM12878	blood:	n/a	chr8:96102328-96102336
4	IKZF1	chr8:96104088-96104627	GM12878	blood:	n/a	n/a
5	ZNF384	chr8:96103802-96105724	K562	blood:	n/a	n/a
6	POLR2A	chr8:96104190-96104723	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:96101622-96104629	GM12878	blood:	n/a	n/a
8	RUNX3	chr8:96103310-96104873	GM12878	blood:	n/a	n/a
9	ATF2	chr8:96103243-96104895	GM12878	blood:	n/a	n/a
10	NFIC	chr8:96101706-96106155	GM12878	blood:	n/a	n/a
11	CEBPB	chr8:96103974-96104645	GM12878	blood:	n/a	n/a
12	ZNF384	chr8:96103603-96105674	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:96104110..96106286-chr8:96127636..96129907,2	K562	blood:
2	chr8:96103364..96105237-chr8:96127596..96129406,2	MCF-7	breast:
3	chr8:96100209..96105308-chr8:96143573..96151809,12	K562	blood:
4	chr8:96102764..96105362-chr8:96180732..96183307,2	K562	blood:
5	chr8:96095732..96098927-chr8:96100479..96105447,7	K562	blood:
6	chr8:96100149..96103800-chr8:96104108..96108014,6	K562	blood:
7	chr8:96102152..96104618-chr8:96259174..96260844,2	K562	blood:
8	chr8:96102685..96105358-chr8:96146565..96148952,2	K562	blood:
9	chr8:96036531..96038925-chr8:96102648..96104628,2	K562	blood:
10	chr8:96103659..96105406-chr8:96132239..96133747,2	K562	blood:
11	chr8:96103809..96105696-chr8:96115695..96118542,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254248	TF binding region
ENSG00000175895	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000254248	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12543421	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12548426	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13248868	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13273307	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1451711	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1451712	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1946941	0.88[EUR][1000 genomes]
rs1946943	0.88[EUR][1000 genomes]
rs1946944	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2341400	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4236831	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4321970	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4323439	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4329243	0.87[EUR][1000 genomes]
rs4540384	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4734298	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4734299	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6987762	0.88[EUR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	nsv891206	chr8:96092251-96115476	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96098600-96111600	Weak transcription	Pancreas	Pancrea
2	chr8:96100400-96108000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:96100400-96113600	Weak transcription	Lung	lung
4	chr8:96100600-96106800	Weak transcription	Spleen	Spleen
5	chr8:96100600-96112000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:96100800-96104800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:96100800-96107600	Weak transcription	Hela-S3	cervix
8	chr8:96100800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:96102000-96106600	Enhancers	Primary B cells from cord blood	blood
10	chr8:96102000-96107400	Enhancers	Primary B cells from peripheral blood	blood
11	chr8:96102400-96107600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:96102800-96105600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:96102800-96105600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:96102800-96111800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:96102800-96112000	Weak transcription	A549	lung
16	chr8:96103000-96105600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:96103000-96107400	Weak transcription	NH-A	brain
18	chr8:96103000-96108400	Weak transcription	HMEC	breast
19	chr8:96103000-96112000	Weak transcription	Osteobl	bone
20	chr8:96103200-96105600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:96103200-96107600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:96103200-96108400	Weak transcription	NHEK	skin
23	chr8:96103200-96111600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:96103600-96110000	Weak transcription	Fetal Thymus	thymus
25	chr8:96104200-96105600	Enhancers	GM12878-XiMat	blood
26	chr8:96104200-96105600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:96104200-96105800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:96104200-96106000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:96104400-96105000	Enhancers	K562	blood
30	chr8:96104400-96107600	Weak transcription	HepG2	liver
31	chr8:96104600-96109400	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links