Variant report

Variant	rs6132562
Chromosome Location	chr20:23068346-23068347
allele	A/G
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	SPI1	chr20:23067551-23068987	GM12878	blood:	n/a	chr20:23067719-23067732

No.	Distal block	Cell Line	Cell type
1	chr20:23046148..23048571-chr20:23068060..23069744,2	K562	blood:
2	chr20:23067329..23069872-chr20:23071485..23073602,2	MCF-7	breast:
3	chr20:23068190..23071729-chr20:23127032..23130141,4	K562	blood:
4	chr20:23063365..23065588-chr20:23067624..23069134,2	K562	blood:
5	chr20:23068148..23069652-chr20:23071851..23074336,2	K562	blood:
6	chr20:23068076..23069690-chr20:23128418..23130201,2	K562	blood:

Variant related genes	Relation type
CD93	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11087413	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1884654	0.91[CHB][hapmap]
rs3746731	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6076019	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6113935	0.91[EUR][1000 genomes]
rs6137821	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][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	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv526474	chr20:23065209-23073904	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23064000-23072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:23064200-23072000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr20:23064200-23072400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr20:23064600-23068600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr20:23065800-23068400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr20:23066000-23075800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:23066600-23068800	Enhancers	GM12878-XiMat	blood
8	chr20:23066800-23068400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr20:23067000-23068400	Weak transcription	Right Ventricle	heart
10	chr20:23067000-23068600	Enhancers	Spleen	Spleen
11	chr20:23067000-23068800	Bivalent Enhancer	Fetal Stomach	stomach
12	chr20:23067000-23069000	Enhancers	Placenta	Placenta
13	chr20:23067000-23069200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr20:23067000-23072000	Weak transcription	Pancreas	Pancrea
15	chr20:23067000-23073800	Weak transcription	Esophagus	oesophagus
16	chr20:23067200-23069000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr20:23067200-23069000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr20:23067200-23069200	Enhancers	Fetal Muscle Trunk	muscle
19	chr20:23067200-23071400	Weak transcription	Ovary	ovary
20	chr20:23067200-23072200	Weak transcription	Lung	lung
21	chr20:23067400-23068600	Enhancers	HUVEC	blood vessel
22	chr20:23067400-23068800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr20:23067400-23069000	Enhancers	Fetal Thymus	thymus
24	chr20:23067400-23069400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr20:23067400-23069400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr20:23067400-23072400	Weak transcription	Fetal Lung	lung
27	chr20:23067600-23068400	Enhancers	Right Atrium	heart
28	chr20:23067600-23068400	Enhancers	Stomach Smooth Muscle	stomach
29	chr20:23067600-23068600	Enhancers	Primary B cells from peripheral blood	blood
30	chr20:23067600-23068800	Enhancers	Adipose Nuclei	Adipose
31	chr20:23067600-23068800	Enhancers	Brain Substantia Nigra	brain
32	chr20:23067600-23069000	Enhancers	Fetal Muscle Leg	muscle
33	chr20:23067600-23069400	Enhancers	Primary hematopoietic stem cells	blood
34	chr20:23067800-23068400	Enhancers	Left Ventricle	heart
35	chr20:23067800-23069000	Enhancers	Primary T cells from cord blood	blood
36	chr20:23067800-23069400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr20:23067800-23069600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr20:23067800-23069600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr20:23067800-23072400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr20:23068000-23068600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr20:23068200-23068400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr20:23068200-23068400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr20:23068200-23068800	Flanking Active TSS	K562	blood

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