Variant report

Variant	rs12255221
Chromosome Location	chr10:91091717-91091718
allele	C/T
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	POLR2A	chr10:91091691-91094196	GM18526	blood:	n/a	n/a
2	BHLHE40	chr10:91091306-91094227	GM12878	blood:	n/a	chr10:91092944-91092957
3	POLR2A	chr10:91091652-91094449	GM12891	blood:	n/a	n/a
4	PAX5	chr10:91091103-91091762	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:91086403..91089519-chr10:91091273..91094339,4	K562	blood:

Variant related genes	Relation type
IFIT3	TF binding region
ENSG00000119917	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10159717	0.95[AFR][1000 genomes]
rs11203082	0.91[AFR][1000 genomes]
rs11203083	0.91[AFR][1000 genomes]
rs11203091	1.00[AMR][1000 genomes]
rs11203093	0.91[AFR][1000 genomes]
rs11203095	0.91[AFR][1000 genomes]
rs11203100	0.83[AMR][1000 genomes]
rs12242873	0.92[AFR][1000 genomes]
rs12243051	0.95[AFR][1000 genomes]
rs12243721	0.87[AFR][1000 genomes]
rs12243856	0.87[AFR][1000 genomes]
rs12245646	0.87[AFR][1000 genomes]
rs12250550	0.87[AFR][1000 genomes]
rs12250610	0.87[AFR][1000 genomes]
rs12251678	1.00[AFR][1000 genomes]
rs12252455	0.88[AFR][1000 genomes]
rs12256540	0.87[AFR][1000 genomes]
rs12259825	1.00[AFR][1000 genomes]
rs12259887	1.00[AFR][1000 genomes]
rs12263019	1.00[AFR][1000 genomes]
rs12263584	0.87[AFR][1000 genomes]
rs12268333	1.00[AMR][1000 genomes]
rs12573805	0.97[ASN][1000 genomes]
rs1888922	0.90[ASN][1000 genomes]
rs7910817	0.83[AFR][1000 genomes]
rs7912070	0.88[AFR][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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91087200-91093600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:91088000-91099800	Weak transcription	Gastric	stomach
3	chr10:91088200-91091800	Enhancers	Primary B cells from peripheral blood	blood
4	chr10:91088200-91091800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:91088200-91092000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:91088200-91092000	Weak transcription	Aorta	Aorta
7	chr10:91088200-91092400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr10:91088200-91093200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:91088200-91093400	Weak transcription	Esophagus	oesophagus
10	chr10:91088400-91091800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:91088400-91091800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr10:91088400-91091800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr10:91088400-91092000	Enhancers	Fetal Intestine Large	intestine
14	chr10:91088400-91092200	Weak transcription	HMEC	breast
15	chr10:91088600-91091800	Weak transcription	K562	blood
16	chr10:91088600-91092200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr10:91088800-91091800	Enhancers	Dnd41	blood
18	chr10:91088800-91092000	Weak transcription	A549	lung
19	chr10:91088800-91092200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr10:91088800-91092200	Enhancers	Left Ventricle	heart
21	chr10:91088800-91092600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr10:91089000-91091800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:91089000-91091800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:91089000-91091800	Enhancers	Fetal Intestine Small	intestine
25	chr10:91089000-91091800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr10:91089000-91091800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr10:91089000-91091800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr10:91089000-91091800	Weak transcription	HSMMtube	muscle
29	chr10:91089000-91091800	Enhancers	NHDF-Ad	bronchial
30	chr10:91089000-91092000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr10:91089000-91092000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:91089000-91092000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:91089000-91092200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr10:91089000-91092200	Weak transcription	Fetal Heart	heart
35	chr10:91089200-91091800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:91089200-91091800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr10:91089200-91091800	Enhancers	Primary hematopoietic stem cells	blood
38	chr10:91089200-91091800	Enhancers	Liver	Liver
39	chr10:91089200-91091800	Weak transcription	Fetal Kidney	kidney
40	chr10:91089200-91092000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:91089200-91092000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr10:91089400-91091800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:91089400-91091800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:91089400-91091800	Weak transcription	Fetal Stomach	stomach
45	chr10:91089400-91091800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr10:91089400-91091800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr10:91089400-91092800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:91089600-91091800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr10:91089600-91091800	Enhancers	Adipose Nuclei	Adipose
50	chr10:91089600-91091800	Weak transcription	Colonic Mucosa	Colon

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