Variant report

Variant	rs12386850
Chromosome Location	chr8:92054293-92054294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:92052288-92054368	GM12891	blood:	n/a	n/a
2	MXI1	chr8:92052114-92054509	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr8:92052292-92054389	GM12878	blood:	n/a	n/a
4	WRNIP1	chr8:92054198-92054387	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:92049693..92055107-chr8:92080246..92084828,10	MCF-7	breast:
2	chr8:92053400..92055848-chr8:92057058..92058956,2	MCF-7	breast:
3	chr8:92051581..92056124-chr8:92079748..92084488,10	MCF-7	breast:
4	chr8:91995673..92001053-chr8:92048725..92054416,11	K562	blood:
5	chr20:45984920..45986849-chr8:92052948..92055151,2	MCF-7	breast:
6	chr8:92033473..92035226-chr8:92053673..92056173,2	MCF-7	breast:
7	chr8:92054183..92058700-chr8:92080091..92083007,4	K562	blood:

No data

Variant related genes	Relation type
TMEM55A	TF binding region
ENSG00000101040	Chromatin interaction
ENSG00000253738	Chromatin interaction
ENSG00000155100	Chromatin interaction
ENSG00000253250	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10086690	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10087080	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10087372	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10090882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091616	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10097509	0.85[ASN][1000 genomes]
rs10113460	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28398373	0.85[ASN][1000 genomes]
rs28514810	0.85[ASN][1000 genomes]
rs4260862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4467904	0.80[EUR][1000 genomes]
rs4609161	0.86[CHB][hapmap]
rs57609704	0.81[ASN][1000 genomes]
rs61003561	0.80[EUR][1000 genomes]
rs6999873	0.80[EUR][1000 genomes]
rs73301705	0.80[EUR][1000 genomes]
rs73301707	0.80[EUR][1000 genomes]
rs7820781	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843850	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92052200-92054400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:92053200-92054400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:92053200-92054400	Flanking Active TSS	Dnd41	blood
4	chr8:92053400-92054400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:92053400-92054400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr8:92053400-92054400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr8:92053400-92054400	Flanking Active TSS	Fetal Lung	lung
8	chr8:92053600-92054400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr8:92053600-92054400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:92053600-92057400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:92053600-92060200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:92053800-92054400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:92053800-92054400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:92053800-92054400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:92053800-92054400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:92053800-92054400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:92053800-92054400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:92053800-92054400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:92053800-92054400	Enhancers	Primary T cells from cord blood	blood
20	chr8:92053800-92054400	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:92053800-92054400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:92053800-92054400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:92053800-92054400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:92053800-92054400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:92053800-92054400	Enhancers	Brain Angular Gyrus	brain
26	chr8:92053800-92054400	Enhancers	Brain Hippocampus Middle	brain
27	chr8:92053800-92054400	Enhancers	Brain Substantia Nigra	brain
28	chr8:92053800-92054400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr8:92053800-92054400	Enhancers	Fetal Muscle Leg	muscle
30	chr8:92053800-92054400	Enhancers	Placenta	Placenta
31	chr8:92053800-92054400	Enhancers	Thymus	Thymus
32	chr8:92053800-92054400	Enhancers	NHDF-Ad	bronchial
33	chr8:92053800-92055800	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr8:92053800-92065800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr8:92053800-92080400	Weak transcription	Fetal Brain Female	brain
36	chr8:92054000-92054400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:92054000-92054400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:92054000-92054400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:92054000-92054400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr8:92054000-92054400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:92054000-92054400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:92054000-92054400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:92054000-92054400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:92054000-92054400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:92054000-92054400	Enhancers	Adipose Nuclei	Adipose
46	chr8:92054000-92054400	Enhancers	Brain Anterior Caudate	brain
47	chr8:92054000-92054400	Enhancers	Brain Cingulate Gyrus	brain
48	chr8:92054000-92054400	Enhancers	Colon Smooth Muscle	Colon
49	chr8:92054000-92054400	Enhancers	Fetal Kidney	kidney
50	chr8:92054000-92054400	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links