Variant report

Variant	rs11654604
Chromosome Location	chr17:34077232-34077233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:34056822..34061069-chr17:34076136..34079355,3	K562	blood:
2	chr17:34075379..34078199-chr17:34134410..34136040,2	K562	blood:
3	chr17:34076253..34080125-chr17:34136044..34138014,4	K562	blood:
4	chr17:34075065..34077539-chr17:34081215..34083292,2	K562	blood:

Variant related genes	Relation type
ENSG00000267578	Chromatin interaction
ENSG00000172660	Chromatin interaction
ENSG00000141150	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11080359	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11650416	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56019936	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11654604	TAF15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34071000-34079800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:34074200-34078200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr17:34074600-34078400	Enhancers	HMEC	breast
4	chr17:34074800-34078400	Enhancers	NHEK	skin
5	chr17:34075600-34077800	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr17:34075600-34078200	Bivalent Enhancer	Adipose Nuclei	Adipose
7	chr17:34076200-34077400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:34076200-34077600	Weak transcription	Hela-S3	cervix
9	chr17:34076600-34077600	Bivalent Enhancer	Fetal Heart	heart
10	chr17:34076600-34077600	Bivalent Enhancer	Fetal Stomach	stomach
11	chr17:34076600-34078000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:34076800-34077400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr17:34076800-34077400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr17:34076800-34077400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr17:34076800-34077400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr17:34076800-34077400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr17:34076800-34077400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
18	chr17:34076800-34077400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:34076800-34077400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
20	chr17:34076800-34077400	Bivalent Enhancer	Fetal Brain Male	brain
21	chr17:34076800-34077400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
22	chr17:34076800-34077600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr17:34076800-34077600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr17:34076800-34077600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr17:34076800-34077600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:34076800-34077600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:34076800-34077600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
28	chr17:34076800-34077600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr17:34076800-34077600	Bivalent Enhancer	HSMM	muscle
30	chr17:34076800-34077800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:34076800-34077800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:34076800-34077800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr17:34076800-34077800	Bivalent Enhancer	Fetal Thymus	thymus
34	chr17:34076800-34078000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
35	chr17:34077000-34077400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr17:34077000-34077400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr17:34077000-34077400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:34077000-34077400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:34077000-34077400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:34077000-34077400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr17:34077000-34077400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr17:34077000-34077400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr17:34077000-34077400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr17:34077000-34077400	Flanking Bivalent TSS/Enh	Thymus	Thymus
45	chr17:34077000-34077400	Bivalent Enhancer	Spleen	Spleen
46	chr17:34077000-34077400	Flanking Active TSS	A549	lung
47	chr17:34077000-34077400	Bivalent/Poised TSS	HepG2	liver
48	chr17:34077000-34077600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr17:34077000-34077600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr17:34077000-34077600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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