Variant report

Variant	rs61476017
Chromosome Location	chr17:46570251-46570252
allele	C/G
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46569538..46570528-chr17:46662492..46663352,3	K562	blood:
2	chr17:46569144..46570490-chr17:46662375..46663400,6	MCF-7	breast:
3	chr17:46568685..46570931-chr17:46575612..46578799,3	MCF-7	breast:
4	chr17:46569342..46572136-chr17:46582152..46585021,2	MCF-7	breast:
5	chr17:46569189..46572269-chr17:46574424..46577287,4	MCF-7	breast:
6	chr17:46569554..46570286-chr17:46670636..46671886,3	K562	blood:
7	chr17:46568782..46571366-chr17:46604713..46607657,2	MCF-7	breast:
8	chr17:46569552..46570496-chr17:46664083..46664942,2	K562	blood:
9	chr17:46568691..46570864-chr17:46669281..46671058,2	K562	blood:
10	chr17:46568059..46570366-chr17:46679514..46681666,2	K562	blood:
11	chr17:46569833..46570442-chr17:46695977..46696577,2	K562	blood:
12	chr17:46570087..46572342-chr20:55574944..55576592,2	MCF-7	breast:
13	chr17:46532115..46533858-chr17:46568103..46570537,2	MCF-7	breast:
14	chr17:46569639..46570418-chr20:55570361..55571217,3	MCF-7	breast:
15	chr17:46570235..46572365-chr20:55509370..55511788,2	MCF-7	breast:
16	chr17:46569963..46570488-chr20:55549187..55549743,3	MCF-7	breast:
17	chr17:46569545..46570868-chr17:46662367..46663838,14	MCF-7	breast:
18	chr17:46569593..46570449-chr20:55548967..55549794,5	MCF-7	breast:
19	chr17:46564020..46565955-chr17:46568575..46570721,2	K562	blood:
20	chr17:46569662..46570420-chr17:46671159..46671878,2	MCF-7	breast:
21	chr17:46569196..46571892-chr17:46596978..46599661,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233101	Chromatin interaction
ENSG00000251772	Chromatin interaction
ENSG00000120075	Chromatin interaction
ENSG00000108511	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12948214	1.00[AMR][1000 genomes]
rs57199687	1.00[AMR][1000 genomes]
rs58067327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58218522	1.00[AFR][1000 genomes]
rs59555055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59934148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60681913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61185573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985849	1.00[AFR][1000 genomes]
rs73985851	1.00[AFR][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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	esv1002528	chr17:46566180-46575960	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46569200-46570600	Flanking Active TSS	K562	blood
2	chr17:46569400-46570400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr17:46569400-46570600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr17:46569400-46570800	Bivalent Enhancer	Stomach Mucosa	stomach
5	chr17:46569400-46570800	Enhancers	Spleen	Spleen
6	chr17:46569600-46571000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:46569800-46570400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:46569800-46570400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr17:46569800-46570400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:46569800-46570400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr17:46569800-46570400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:46569800-46570400	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
13	chr17:46569800-46570400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
14	chr17:46569800-46570400	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr17:46569800-46570400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr17:46569800-46570400	Enhancers	Gastric	stomach
17	chr17:46569800-46570400	Enhancers	Pancreas	Pancrea
18	chr17:46569800-46570400	Flanking Active TSS	HMEC	breast
19	chr17:46569800-46570600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr17:46569800-46570600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:46569800-46570600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:46569800-46570600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:46569800-46570600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
24	chr17:46569800-46570600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr17:46569800-46570600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr17:46569800-46570600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr17:46569800-46570600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr17:46569800-46570600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr17:46569800-46570600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:46569800-46570600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr17:46569800-46570600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr17:46569800-46570600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr17:46569800-46570600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:46569800-46570600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:46569800-46570600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:46569800-46570600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:46569800-46570600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr17:46569800-46570600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
39	chr17:46569800-46570600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:46569800-46570600	Flanking Active TSS	Colonic Mucosa	Colon
41	chr17:46569800-46570600	Enhancers	Esophagus	oesophagus
42	chr17:46569800-46570600	Flanking Active TSS	Fetal Kidney	kidney
43	chr17:46569800-46570600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr17:46569800-46570600	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr17:46569800-46570600	Active TSS	Hela-S3	cervix
46	chr17:46569800-46570600	Flanking Active TSS	HSMMtube	muscle
47	chr17:46569800-46570600	Flanking Active TSS	HUVEC	blood vessel
48	chr17:46569800-46570600	Flanking Active TSS	NH-A	brain
49	chr17:46569800-46570800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr17:46569800-46570800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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