Variant report

Variant	rs11991436
Chromosome Location	chr8:124215511-124215512
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	POLR2A	chr8:124213281-124215547	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124213969..124215797-chr8:124285287..124287584,2	K562	blood:
2	chr8:124193270..124195385-chr8:124214799..124217849,3	MCF-7	breast:
3	chr8:124211365..124212921-chr8:124215055..124216654,2	K562	blood:

Variant related genes	Relation type
FAM83A-AS1	TF binding region
ENSG00000147689	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000165156	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10103175	1.00[MEX][hapmap]
rs11991144	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs11992098	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs11992167	0.85[AMR][1000 genomes]
rs11996182	1.00[MEX][hapmap]
rs16897891	1.00[MEX][hapmap]
rs16897903	1.00[MEX][hapmap]
rs16897940	1.00[MEX][hapmap]
rs16898127	1.00[MEX][hapmap]
rs16898144	0.85[AMR][1000 genomes]
rs1869248	1.00[MEX][hapmap]
rs34654114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5001348	1.00[MEX][hapmap]
rs6987701	1.00[MEX][hapmap]
rs7003464	1.00[MEX][hapmap]
rs73703770	0.85[AMR][1000 genomes]
rs73703771	0.85[AMR][1000 genomes]
rs7814158	1.00[AMR][1000 genomes]
rs7814371	0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7817491	0.85[AMR][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124193400-124241200	Weak transcription	Right Atrium	heart
2	chr8:124199800-124216600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:124201600-124216000	Strong transcription	NHEK	skin
4	chr8:124201600-124216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:124205200-124217600	Weak transcription	Gastric	stomach
6	chr8:124209800-124217200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:124209800-124217600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:124210000-124215800	Strong transcription	K562	blood
9	chr8:124210800-124217400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:124210800-124217600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:124211200-124217400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:124212800-124231600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:124214000-124217400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:124214200-124217400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:124214200-124217400	Weak transcription	HMEC	breast
16	chr8:124214200-124231400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:124214400-124217600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:124214600-124215600	Enhancers	Liver	Liver
19	chr8:124214800-124216000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:124214800-124217400	Weak transcription	Esophagus	oesophagus
21	chr8:124215200-124219800	Weak transcription	Hela-S3	cervix
22	chr8:124215400-124217000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:124215400-124217200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:124215400-124217400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links