Variant report

Variant	rs17164824
Chromosome Location	chr5:126884233-126884234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126852265..126854910-chr5:126884184..126886547,3	MCF-7	breast:
2	chr5:126874043..126875799-chr5:126883896..126886572,2	K562	blood:

Variant related genes	Relation type
ENSG00000164244	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10491250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519935	1.00[AFR][1000 genomes]
rs12110288	0.81[EUR][1000 genomes]
rs1363384	1.00[AFR][1000 genomes]
rs17164752	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17164828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17684679	1.00[AFR][1000 genomes]
rs17763126	1.00[AFR][1000 genomes]
rs17763172	1.00[AFR][1000 genomes]
rs17839687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2108888	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3885906	0.93[EUR][1000 genomes]
rs55821064	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892624	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7728864	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126860600-126889400	Weak transcription	Esophagus	oesophagus
2	chr5:126870600-126898000	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:126871000-126892800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:126871200-126889400	Weak transcription	Aorta	Aorta
5	chr5:126871200-126889400	Weak transcription	Gastric	stomach
6	chr5:126871200-126889400	Weak transcription	Pancreas	Pancrea
7	chr5:126871200-126889400	Weak transcription	Spleen	Spleen
8	chr5:126871200-126896800	Weak transcription	Colonic Mucosa	Colon
9	chr5:126871400-126887600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:126871400-126891600	Weak transcription	Right Ventricle	heart
11	chr5:126871600-126887400	Weak transcription	Brain Angular Gyrus	brain
12	chr5:126871600-126888000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:126871600-126889000	Weak transcription	Small Intestine	intestine
14	chr5:126871800-126901400	Weak transcription	Brain Substantia Nigra	brain
15	chr5:126875200-126886400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:126875200-126887400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:126875600-126887400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:126875600-126889000	Weak transcription	NHEK	skin
19	chr5:126875800-126887400	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:126875800-126887400	Weak transcription	Fetal Kidney	kidney
21	chr5:126875800-126887400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:126875800-126889600	Weak transcription	Psoas Muscle	Psoas
23	chr5:126876000-126885600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:126876000-126886200	Weak transcription	Brain Anterior Caudate	brain
25	chr5:126876000-126891400	Weak transcription	Fetal Heart	heart
26	chr5:126876000-126898000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:126876200-126884800	Weak transcription	NHLF	lung
28	chr5:126876200-126887400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:126876400-126885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:126876400-126885200	Weak transcription	Fetal Lung	lung
31	chr5:126876400-126885600	Weak transcription	K562	blood
32	chr5:126876400-126886400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:126876400-126887400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:126876400-126887400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:126876400-126887400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:126876400-126888000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:126876400-126891200	Weak transcription	Fetal Brain Male	brain
38	chr5:126876400-126891400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:126876400-126897200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:126876400-126898200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:126876600-126893200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:126876800-126896600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:126880000-126891400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:126880600-126885400	Weak transcription	Fetal Stomach	stomach
45	chr5:126880600-126885400	Weak transcription	Fetal Thymus	thymus
46	chr5:126880600-126886000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr5:126880600-126886200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:126880600-126886200	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:126880600-126887400	Weak transcription	Fetal Intestine Small	intestine
50	chr5:126880600-126888000	Weak transcription	Brain Germinal Matrix	brain

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