Variant report

Variant	rs1149619
Chromosome Location	chr11:76505002-76505003
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76504803..76506935-chr11:76570633..76574402,3	MCF-7	breast:
2	chr11:76504410..76507803-chr11:76511412..76514048,3	MCF-7	breast:
3	chr11:76499655..76502011-chr11:76503724..76505940,3	K562	blood:
4	chr11:76504952..76506827-chr11:76516420..76519216,2	MCF-7	breast:
5	chr11:76504723..76506635-chr11:76511764..76514522,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078124	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1149606	0.91[EUR][1000 genomes]
rs1149608	0.85[EUR][1000 genomes]
rs1149609	0.91[EUR][1000 genomes]
rs1149610	0.91[EUR][1000 genomes]
rs1149612	0.86[EUR][1000 genomes]
rs1149614	0.95[EUR][1000 genomes]
rs1149615	0.95[EUR][1000 genomes]
rs1149616	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1149617	0.97[EUR][1000 genomes]
rs1149618	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1224955	0.91[EUR][1000 genomes]
rs1687692	0.85[ASN][1000 genomes]
rs1687693	0.85[ASN][1000 genomes]
rs34909318	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35044108	0.82[ASN][1000 genomes]
rs3740776	0.83[EUR][1000 genomes]
rs3740777	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897931	chr11:76489673-76540708	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1149619	RP11-21L23.3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76496000-76506800	Weak transcription	Aorta	Aorta
2	chr11:76496200-76513800	Weak transcription	Fetal Kidney	kidney
3	chr11:76496600-76509800	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:76496800-76507400	Enhancers	Stomach Mucosa	stomach
5	chr11:76496800-76510000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:76498400-76505800	Enhancers	Placenta	Placenta
7	chr11:76499000-76510200	Weak transcription	Thymus	Thymus
8	chr11:76500000-76506400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:76500400-76505600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:76500400-76509800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:76500400-76510000	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:76500800-76510000	Weak transcription	Brain Substantia Nigra	brain
13	chr11:76502200-76505400	Genic enhancers	HMEC	breast
14	chr11:76502400-76505400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:76502600-76505400	Enhancers	Osteobl	bone
16	chr11:76503000-76506200	Enhancers	Fetal Intestine Large	intestine
17	chr11:76503200-76506600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:76503400-76505200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:76503400-76509400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:76503400-76510000	Weak transcription	K562	blood
21	chr11:76503600-76505400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:76503600-76506600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:76503800-76505200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:76503800-76505400	Enhancers	Pancreas	Pancrea
25	chr11:76503800-76505800	Enhancers	Fetal Muscle Leg	muscle
26	chr11:76503800-76506000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:76503800-76506200	Transcr. at gene 5' and 3'	A549	lung
28	chr11:76504000-76505200	Genic enhancers	Fetal Stomach	stomach
29	chr11:76504000-76505200	Enhancers	Left Ventricle	heart
30	chr11:76504000-76505400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:76504000-76505400	Enhancers	Colonic Mucosa	Colon
32	chr11:76504000-76505400	Enhancers	Right Ventricle	heart
33	chr11:76504000-76505400	Enhancers	Stomach Smooth Muscle	stomach
34	chr11:76504000-76505600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:76504000-76505600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr11:76504000-76505600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr11:76504000-76505600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:76504000-76505600	Genic enhancers	NHEK	skin
39	chr11:76504000-76505800	Enhancers	Fetal Brain Female	brain
40	chr11:76504000-76506000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:76504000-76506000	Enhancers	Fetal Muscle Trunk	muscle
42	chr11:76504000-76506000	Enhancers	Lung	lung
43	chr11:76504000-76506800	Enhancers	Duodenum Mucosa	Duodenum
44	chr11:76504000-76507400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:76504200-76505200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:76504200-76505200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr11:76504200-76505400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:76504200-76505400	Flanking Active TSS	HepG2	liver
49	chr11:76504200-76505600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:76504200-76505600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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