Variant report

Variant	rs60040178
Chromosome Location	chr17:17108629-17108630
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17107449..17110459-chr17:17138885..17140924,4	K562	blood:
2	chr17:17107445..17110008-chr17:17138195..17140495,3	K562	blood:
3	chr17:17083452..17086510-chr17:17107054..17109094,3	K562	blood:
4	chr17:17099063..17102775-chr17:17103264..17109484,6	K562	blood:
5	chr17:17075571..17077759-chr17:17108274..17110785,3	MCF-7	breast:
6	chr17:17089234..17090798-chr17:17108550..17111029,2	MCF-7	breast:
7	chr17:17107449..17109941-chr17:17138935..17142587,4	MCF-7	breast:
8	chr17:16890452..16892957-chr17:17108135..17110227,2	MCF-7	breast:
9	chr17:17043821..17046160-chr17:17108071..17109890,2	MCF-7	breast:
10	chr17:17108079..17111792-chr17:17180254..17184300,4	K562	blood:
11	chr17:17107370..17109135-chr17:17133343..17134970,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264187	Chromatin interaction
ENSG00000230969	Chromatin interaction
ENSG00000141030	Chromatin interaction
ENSG00000133030	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000266498	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73284553	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284571	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284586	1.00[AMR][1000 genomes]
rs8068606	0.83[AMR][1000 genomes]
rs8069957	0.82[AFR][1000 genomes];1.00[AMR][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	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3324366	chr17:17107227-17112025	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17104200-17108800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:17104200-17110400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:17104400-17114000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:17104600-17108800	Enhancers	Left Ventricle	heart
5	chr17:17104800-17114000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:17105000-17116200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:17106200-17109200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:17106400-17108800	Enhancers	Right Atrium	heart
9	chr17:17106400-17110400	Enhancers	Fetal Brain Male	brain
10	chr17:17106800-17109000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:17107200-17109000	Enhancers	Aorta	Aorta
12	chr17:17107200-17109200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:17107200-17109400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr17:17107200-17110000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr17:17107400-17108800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr17:17107400-17108800	Flanking Active TSS	K562	blood
17	chr17:17107400-17109400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr17:17107400-17109400	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr17:17107600-17109400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr17:17107600-17109600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr17:17107600-17110000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr17:17107600-17110000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr17:17107600-17110000	Flanking Active TSS	Dnd41	blood
24	chr17:17107600-17110400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr17:17107800-17109000	Flanking Active TSS	NHEK	skin
26	chr17:17107800-17109400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr17:17107800-17109600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr17:17108000-17109000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:17108000-17109200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr17:17108000-17109400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:17108000-17109800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr17:17108000-17109800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:17108000-17110200	Flanking Active TSS	Colonic Mucosa	Colon
34	chr17:17108000-17110200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr17:17108200-17108800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:17108200-17108800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr17:17108200-17109200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:17108200-17109200	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr17:17108200-17109200	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr17:17108200-17109400	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr17:17108200-17109400	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr17:17108200-17109400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr17:17108200-17109400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr17:17108200-17109400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr17:17108200-17109400	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr17:17108200-17109600	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr17:17108200-17109600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr17:17108200-17109600	Flanking Active TSS	HUVEC	blood vessel
49	chr17:17108200-17109800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr17:17108200-17109800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links