Variant report

Variant	rs622675
Chromosome Location	chr11:100660723-100660724
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	MAFK	chr11:100660236-100660814	IMR90	lung:	n/a	chr11:100660409-100660424
2	MAFK	chr11:100660154-100660785	H1-hESC	embryonic stem cell:	n/a	chr11:100660409-100660424
3	MAFF	chr11:100660227-100660913	K562	blood:	n/a	chr11:100660407-100660425
4	FOXA2	chr11:100660636-100660977	A549	lung:	n/a	n/a
5	BACH1	chr11:100660071-100660787	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100659587..100661942-chr11:100730369..100732286,2	K562	blood:

Variant related genes	Relation type
ENSG00000265208	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs509944	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs528494	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs540185	0.94[CEU][hapmap]
rs541931	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs546584	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs556146	0.82[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs586495	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs618291	0.86[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs650867	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs678681	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100645600-100679800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:100645800-100679600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:100649800-100661800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:100654400-100671200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:100656000-100661800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:100656400-100661800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:100656600-100661200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:100656600-100662000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:100656600-100662800	Weak transcription	Right Ventricle	heart
10	chr11:100656600-100679600	Weak transcription	Fetal Lung	lung
11	chr11:100656800-100661800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:100656800-100668800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:100657000-100661200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:100657000-100675600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:100658800-100661000	Enhancers	Liver	Liver
16	chr11:100659600-100663400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr11:100659800-100663400	Enhancers	A549	lung
18	chr11:100660000-100661600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:100660000-100662000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr11:100660000-100663400	Enhancers	NHEK	skin
21	chr11:100660200-100661400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:100660200-100661800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:100660200-100663200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:100660400-100661000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr11:100660400-100661400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:100660400-100661600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:100660400-100661800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr11:100660400-100661800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr11:100660400-100669400	Weak transcription	Placenta	Placenta
30	chr11:100660400-100679400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:100660400-100679600	Weak transcription	Stomach Mucosa	stomach
32	chr11:100660400-100683600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:100660600-100661200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:100660600-100661800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:100660600-100661800	Weak transcription	Fetal Heart	heart
36	chr11:100660600-100662600	Weak transcription	Adipose Nuclei	Adipose
37	chr11:100660600-100662800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:100660600-100667000	Weak transcription	NH-A	brain
39	chr11:100660600-100668400	Weak transcription	HSMMtube	muscle
40	chr11:100660600-100671000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:100660600-100675600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr11:100660600-100679600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:100660600-100679600	Weak transcription	HSMM	muscle
44	chr11:100660600-100680000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:100660600-100680400	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links