Variant report

Variant	rs11743258
Chromosome Location	chr5:93950478-93950479
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	chr5:93948607-93950816	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ANKRD32	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10056685	0.86[ASN][1000 genomes]
rs10070258	0.86[ASN][1000 genomes]
rs11741678	1.00[ASN][1000 genomes]
rs12516225	0.84[ASN][1000 genomes]
rs1376713	0.86[ASN][1000 genomes]
rs2101898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3756470	0.99[ASN][1000 genomes]
rs6879307	0.84[ASN][1000 genomes]
rs73132669	0.85[ASN][1000 genomes]
rs73132670	0.81[ASN][1000 genomes]
rs7705424	0.83[ASN][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	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv534495	chr5:93789736-93962131	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv598952	chr5:93823951-93956986	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93934600-93951200	Weak transcription	Brain Anterior Caudate	brain
2	chr5:93937800-93950800	Weak transcription	Brain Angular Gyrus	brain
3	chr5:93938400-93951200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:93938600-93952400	Weak transcription	Primary T cells from cord blood	blood
5	chr5:93939800-93952400	Weak transcription	Fetal Kidney	kidney
6	chr5:93942800-93952800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:93942800-93953200	Weak transcription	Aorta	Aorta
8	chr5:93942800-93953200	Weak transcription	Fetal Stomach	stomach
9	chr5:93942800-93953200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:93943000-93951200	Weak transcription	Fetal Lung	lung
11	chr5:93947200-93952000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:93947400-93951800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:93947400-93952200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:93947400-93953000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:93948400-93951200	Weak transcription	Fetal Intestine Large	intestine
16	chr5:93948600-93952200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:93948800-93953000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:93949200-93951200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:93949200-93953000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:93949400-93951000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:93949600-93953000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:93949600-93953200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:93949800-93951400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:93949800-93952200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:93950000-93952200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:93950000-93953200	Enhancers	Liver	Liver
27	chr5:93950200-93950800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:93950200-93952600	Weak transcription	Brain Germinal Matrix	brain
29	chr5:93950400-93950600	Enhancers	Hela-S3	cervix
30	chr5:93950400-93951000	Weak transcription	Fetal Brain Male	brain
31	chr5:93950400-93951400	Weak transcription	Fetal Brain Female	brain
32	chr5:93950400-93952000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:93950400-93952800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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