Variant report

Variant	rs4938782
Chromosome Location	chr11:119978951-119978952
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:119883883..119884665-chr11:119978239..119979557,5	MCF-7	breast:
2	chr11:119977572..119979353-chr11:119984796..119987376,2	MCF-7	breast:
3	chr11:119351120..119353345-chr11:119978719..119981156,2	MCF-7	breast:
4	chr11:119351756..119352703-chr11:119978610..119979156,4	K562	blood:
5	chr11:119598394..119601999-chr11:119977722..119981899,4	MCF-7	breast:
6	chr11:119612041..119612599-chr11:119978926..119979560,2	MCF-7	breast:
7	chr11:119591575..119592358-chr11:119978643..119979235,2	MCF-7	breast:
8	chr11:119536842..119537804-chr11:119978567..119979208,6	K562	blood:
9	chr11:119351964..119353537-chr11:119977212..119979558,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254854	Chromatin interaction
ENSG00000110400	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10892532	0.83[ASN][1000 genomes]
rs1349689	1.00[ASN][1000 genomes]
rs1893391	1.00[ASN][1000 genomes]
rs4938781	0.96[ASN][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4938782	ABCG4	cis	cerebellum	SCAN
rs4938782	DSCAML1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119975200-119980400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:119976400-119979400	Enhancers	Brain Cingulate Gyrus	brain
3	chr11:119976400-119979400	Enhancers	Brain Hippocampus Middle	brain
4	chr11:119976400-119979600	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr11:119976600-119979600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:119977400-119979000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr11:119977400-119979000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr11:119977600-119979000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:119977600-119979000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:119977800-119979000	Enhancers	Brain Angular Gyrus	brain
11	chr11:119978200-119979000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:119978200-119979400	Enhancers	Brain Substantia Nigra	brain
13	chr11:119978400-119979200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr11:119978400-119980000	Enhancers	Fetal Intestine Small	intestine
15	chr11:119978600-119979000	Enhancers	Brain Anterior Caudate	brain
16	chr11:119978600-119979000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
17	chr11:119978600-119979000	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr11:119978600-119979600	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr11:119978800-119979000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:119978800-119979000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr11:119978800-119979000	Enhancers	Liver	Liver
22	chr11:119978800-119979000	Enhancers	Fetal Intestine Large	intestine
23	chr11:119978800-119979200	Bivalent Enhancer	Placenta	Placenta
24	chr11:119978800-119979200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr11:119978800-119979600	Enhancers	Fetal Heart	heart
26	chr11:119978800-119979600	Bivalent Enhancer	Fetal Stomach	stomach
27	chr11:119978800-119979600	Enhancers	Stomach Smooth Muscle	stomach
28	chr11:119978800-119982600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links