Variant report

Variant	rs11992243
Chromosome Location	chr8:124726492-124726493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124718415..124720080-chr8:124724690..124726848,2	MCF-7	breast:
2	chr8:124721349..124725148-chr8:124726476..124729073,3	MCF-7	breast:
3	chr8:124725848..124729501-chr8:124779561..124782454,3	MCF-7	breast:
4	chr8:124724921..124730373-chr8:124736331..124739502,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction

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

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

rs_ID	r²[population]
rs16898765	1.00[AMR][1000 genomes]
rs16898809	1.00[TSI][hapmap]
rs1975114	1.00[AMR][1000 genomes]
rs2018224	1.00[AMR][1000 genomes]
rs7813635	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	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124707000-124727000	Strong transcription	Fetal Intestine Large	intestine
2	chr8:124718800-124731800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:124721200-124727200	Weak transcription	Fetal Stomach	stomach
4	chr8:124721400-124726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:124721600-124726600	Weak transcription	HMEC	breast
6	chr8:124721800-124726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:124724400-124731600	Weak transcription	Stomach Mucosa	stomach
8	chr8:124724600-124727000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr8:124724600-124729600	Enhancers	Brain Hippocampus Middle	brain
10	chr8:124724800-124727600	Enhancers	Brain Anterior Caudate	brain
11	chr8:124724800-124728000	Enhancers	Brain Substantia Nigra	brain
12	chr8:124725000-124732600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:124725200-124727600	Enhancers	Brain Angular Gyrus	brain
14	chr8:124725400-124731200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:124725600-124727400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:124725600-124727800	Weak transcription	HepG2	liver
17	chr8:124725600-124731000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:124725800-124730400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:124726200-124726800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:124726200-124727400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:124726400-124726800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:124726400-124726800	Enhancers	Brain Cingulate Gyrus	brain
23	chr8:124726400-124728000	Enhancers	Esophagus	oesophagus
24	chr8:124726400-124732600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:124726400-124732800	Enhancers	NHEK	skin
26	chr8:124726400-124735800	Genic enhancers	Fetal Intestine Small	intestine

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