Variant report

Variant	rs11558767
Chromosome Location	chr21:40778182-40778183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr21:40778005-40778423	HEK293	kidney:	n/a	n/a
2	SETDB1	chr21:40778061-40778338	U2OS	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40777765..40780368-chr21:40791963..40794618,2	K562	blood:
2	chr21:40777120..40780319-chr21:40780700..40784709,5	K562	blood:
3	chr21:40777765..40781068-chr21:40793118..40796419,3	K562	blood:
4	chr21:40772342..40774461-chr21:40776080..40778844,2	MCF-7	breast:
5	chr21:40758304..40761362-chr21:40776141..40780048,3	MCF-7	breast:

No data

Variant related genes	Relation type
WRB	TF binding region
ENSG00000157578	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13052640	1.00[ASN][1000 genomes]
rs2836989	1.00[ASN][1000 genomes]
rs2836991	0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs2836993	1.00[ASW][hapmap];1.00[ASN][1000 genomes]
rs55737607	1.00[ASN][1000 genomes]
rs55997244	1.00[ASN][1000 genomes]
rs73361793	1.00[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	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1056452	chr21:40741893-40782587	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1063521	chr21:40747754-40790197	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40761000-40779200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr21:40761000-40782600	Weak transcription	Right Atrium	heart
3	chr21:40764600-40800600	Weak transcription	Psoas Muscle	Psoas
4	chr21:40765200-40780400	Weak transcription	Stomach Mucosa	stomach
5	chr21:40765400-40778200	Weak transcription	Fetal Brain Male	brain
6	chr21:40765400-40779200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr21:40765400-40780000	Weak transcription	A549	lung
8	chr21:40765600-40781200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:40766800-40779000	Weak transcription	Right Ventricle	heart
10	chr21:40766800-40783400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr21:40767200-40778200	Weak transcription	Colon Smooth Muscle	Colon
12	chr21:40767200-40779400	Weak transcription	Hela-S3	cervix
13	chr21:40767200-40781000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr21:40768000-40779800	Weak transcription	Placenta	Placenta
15	chr21:40768200-40781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:40768200-40784600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr21:40768800-40782200	Weak transcription	Fetal Thymus	thymus
18	chr21:40769000-40779400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr21:40769000-40780000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr21:40769400-40783200	Weak transcription	Primary B cells from cord blood	blood
21	chr21:40770200-40779000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr21:40770200-40779000	Weak transcription	HepG2	liver
23	chr21:40770200-40785800	Weak transcription	Esophagus	oesophagus
24	chr21:40770400-40779800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr21:40770400-40780600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr21:40772600-40786400	Weak transcription	Fetal Heart	heart
27	chr21:40776600-40786200	Weak transcription	K562	blood
28	chr21:40776800-40778400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr21:40777200-40778200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr21:40777200-40778400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr21:40777200-40778400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:40777200-40778400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
33	chr21:40777200-40778400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr21:40777200-40778400	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr21:40777200-40778600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr21:40777200-40778600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr21:40777200-40780200	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr21:40777400-40778200	ZNF genes & repeats	Dnd41	blood
39	chr21:40777400-40778400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
40	chr21:40777400-40778400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr21:40777400-40778400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:40777400-40778800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr21:40777600-40780000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr21:40777600-40780800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr21:40777600-40781000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr21:40777800-40778200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:40777800-40778200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:40777800-40778200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr21:40777800-40778200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr21:40777800-40778200	ZNF genes & repeats	Brain Anterior Caudate	brain

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