Variant report

Variant	rs2511656
Chromosome Location	chr8:103614346-103614347
allele	C/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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103611593..103614378-chr8:103673976..103676752,2	MCF-7	breast:
2	chr8:103613378..103615290-chr8:103763595..103765178,2	MCF-7	breast:
3	chr8:103605858..103620203-chr8:103816083..103827169,111	MCF-7	breast:
4	chr8:103612606..103614596-chr8:103644963..103646677,2	MCF-7	breast:
5	chr17:56734943..56737715-chr8:103614003..103616887,2	MCF-7	breast:
6	chr8:102503061..102505840-chr8:103613493..103615750,2	MCF-7	breast:
7	chr8:103612111..103614488-chr8:103776554..103778954,2	MCF-7	breast:
8	chr8:103613642..103617354-chr8:103617536..103621858,4	K562	blood:
9	chr7:27990095..27992843-chr8:103613526..103615268,2	MCF-7	breast:
10	chr8:103610633..103618537-chr8:103662081..103669570,24	MCF-7	breast:
11	chr8:103588260..103591760-chr8:103612435..103616119,7	MCF-7	breast:
12	chr8:103610502..103616206-chr8:103792660..103796842,13	MCF-7	breast:
13	chr8:103612230..103614830-chr8:103769298..103771292,3	MCF-7	breast:
14	chr8:103606352..103608915-chr8:103612580..103614660,2	K562	blood:
15	chr13:42607470..42610336-chr8:103613588..103616105,2	MCF-7	breast:
16	chr8:103612523..103614553-chr8:103650121..103652108,2	MCF-7	breast:
17	chr8:103422674..103425478-chr8:103613269..103615408,3	MCF-7	breast:
18	chr8:103613145..103615412-chr8:103740896..103743488,3	MCF-7	breast:
19	chr8:103495758..103497650-chr8:103613429..103615117,2	MCF-7	breast:
20	chr8:103249682..103253435-chr8:103611734..103616089,6	MCF-7	breast:
21	chr8:102618432..102620239-chr8:103613397..103615204,2	MCF-7	breast:
22	chr8:103612597..103614487-chr8:103669576..103671484,2	MCF-7	breast:
23	chr8:103610542..103615201-chr8:103799392..103803025,12	MCF-7	breast:
24	chr8:103394320..103397702-chr8:103611755..103614575,3	MCF-7	breast:
25	chr8:103612645..103615158-chr8:103875756..103877314,2	MCF-7	breast:
26	chr8:103613879..103615577-chr8:103873601..103875436,2	MCF-7	breast:
27	chr8:103613738..103615729-chr8:103803530..103805618,2	MCF-7	breast:
28	chr8:103611739..103615321-chr8:103653896..103661701,12	MCF-7	breast:
29	chr8:103422529..103425503-chr8:103610947..103614616,5	MCF-7	breast:
30	chr8:103583555..103586428-chr8:103613292..103614892,2	MCF-7	breast:
31	chr8:103606751..103617128-chr8:103816392..103825354,41	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083307	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2436928	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2436951	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2436952	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2436955	0.87[ASN][1000 genomes]
rs2436956	0.87[ASN][1000 genomes]
rs2436957	0.87[ASN][1000 genomes]
rs2436958	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2436959	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2436960	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2436962	0.83[ASN][1000 genomes]
rs2436963	0.87[ASN][1000 genomes]
rs2436964	0.87[ASN][1000 genomes]
rs2436965	0.87[ASN][1000 genomes]
rs2436967	0.87[ASN][1000 genomes]
rs2436969	0.87[ASN][1000 genomes]
rs2511659	0.87[ASN][1000 genomes]
rs2511661	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2511663	0.87[ASN][1000 genomes]
rs2511666	0.91[ASN][1000 genomes]
rs66485119	0.87[ASN][1000 genomes]
rs873780	0.83[ASN][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103613000-103614400	Enhancers	Fetal Lung	lung
2	chr8:103613200-103614800	Enhancers	Liver	Liver
3	chr8:103613400-103614400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:103613400-103614400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:103613600-103614800	Enhancers	Fetal Muscle Leg	muscle
6	chr8:103613600-103614800	Enhancers	Right Ventricle	heart
7	chr8:103613800-103614400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:103613800-103614400	Enhancers	Brain Substantia Nigra	brain
9	chr8:103613800-103614400	Enhancers	Fetal Stomach	stomach
10	chr8:103613800-103614400	Enhancers	NHLF	lung
11	chr8:103613800-103614800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:103613800-103616600	Enhancers	Placenta	Placenta
13	chr8:103614000-103614400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:103614000-103614400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr8:103614000-103614600	Enhancers	Fetal Muscle Trunk	muscle
16	chr8:103614000-103614800	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:103614000-103614800	Enhancers	Hela-S3	cervix
18	chr8:103614000-103615400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:103614200-103614400	Enhancers	Colon Smooth Muscle	Colon
20	chr8:103614200-103614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:103614200-103614800	Enhancers	Adipose Nuclei	Adipose
22	chr8:103614200-103615400	Weak transcription	Fetal Intestine Large	intestine
23	chr8:103614200-103615400	Weak transcription	K562	blood
24	chr8:103614200-103615600	Weak transcription	Fetal Intestine Small	intestine

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