Variant report

Variant	rs17454315
Chromosome Location	chr8:119119262-119119263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119112265..119114853-chr8:119117703..119122505,4	K562	blood:
2	chr8:119118327..119120231-chr8:119121736..119124039,3	MCF-7	breast:
3	chr8:119117691..119120187-chr8:119121459..119124230,3	K562	blood:
4	chr8:119118049..119120187-chr8:119121459..119124230,2	K562	blood:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10102634	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10106398	0.85[EUR][1000 genomes]
rs1563564	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2451140	0.83[CEU][hapmap]
rs2451143	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2468139	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2468154	1.00[CEU][hapmap]
rs2514760	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2514761	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs28421966	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs726960	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119102000-119119600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:119102600-119120000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:119107200-119119400	Weak transcription	Fetal Kidney	kidney
4	chr8:119110600-119119600	Weak transcription	Brain Anterior Caudate	brain
5	chr8:119110600-119119600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:119111600-119119800	Weak transcription	Brain Substantia Nigra	brain
7	chr8:119112200-119119600	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:119112200-119120800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:119112400-119119600	Weak transcription	Right Ventricle	heart
10	chr8:119112400-119119600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:119112400-119119800	Weak transcription	Primary B cells from cord blood	blood
12	chr8:119112400-119120600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:119112400-119120600	Weak transcription	Placenta	Placenta
14	chr8:119112400-119120600	Weak transcription	Thymus	Thymus
15	chr8:119112400-119120800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:119112600-119119800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:119113200-119119400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:119113200-119120800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr8:119113400-119120000	Enhancers	Stomach Mucosa	stomach
20	chr8:119113600-119119400	Weak transcription	Primary T cells from cord blood	blood
21	chr8:119114000-119119800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:119114200-119119600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:119114200-119119600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:119114800-119119400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:119114800-119119600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:119115600-119119400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr8:119115600-119120800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:119116600-119119400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:119116600-119119400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr8:119117000-119119600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:119117200-119119600	Transcr. at gene 5' and 3'	NHLF	lung
32	chr8:119117200-119120200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
33	chr8:119117200-119120200	Transcr. at gene 5' and 3'	NHEK	skin
34	chr8:119117200-119123000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:119117200-119123000	Transcr. at gene 5' and 3'	Osteobl	bone
36	chr8:119117400-119119600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:119117400-119119600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:119117400-119119600	Weak transcription	Brain Angular Gyrus	brain
39	chr8:119117400-119119600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:119117400-119123000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:119117600-119119400	Weak transcription	Fetal Stomach	stomach
42	chr8:119117600-119119400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:119117600-119119600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:119117600-119119600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:119117600-119119600	Weak transcription	Esophagus	oesophagus
46	chr8:119117600-119119600	Enhancers	Fetal Intestine Small	intestine
47	chr8:119117600-119119600	Weak transcription	Lung	lung
48	chr8:119117600-119119600	Weak transcription	Pancreas	Pancrea
49	chr8:119117600-119119600	Weak transcription	Psoas Muscle	Psoas
50	chr8:119117600-119119600	Weak transcription	Spleen	Spleen

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