Variant report

Variant	rs1687693
Chromosome Location	chr11:76512126-76512127
allele	A/C
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:76492689..76500449-chr11:76507700..76515545,17	K562	blood:
2	chr11:76480920..76483626-chr11:76511768..76514623,2	MCF-7	breast:
3	chr11:76493164..76499691-chr11:76510608..76517041,14	MCF-7	breast:
4	chr11:76504723..76506635-chr11:76511764..76514522,2	MCF-7	breast:
5	chr11:76504410..76507803-chr11:76511412..76514048,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSKU-1	chr11:76511408-76515599	ENSG00000261578.1

No data

Variant related genes	Relation type
ENSG00000255100	Chromatin interaction
ENSG00000182704	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1149616	0.85[ASN][1000 genomes]
rs1149618	0.85[ASN][1000 genomes]
rs1149619	0.85[ASN][1000 genomes]
rs1149622	0.90[ASN][1000 genomes]
rs1664081	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687692	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35044108	0.87[EUR][1000 genomes];0.96[ASN][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
rs1687693	RP11-21L23.3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76496200-76513800	Weak transcription	Fetal Kidney	kidney
2	chr11:76508800-76515200	Enhancers	Liver	Liver
3	chr11:76509400-76512800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:76509400-76512800	Enhancers	Small Intestine	intestine
5	chr11:76509800-76515600	Enhancers	Stomach Mucosa	stomach
6	chr11:76509800-76515800	Enhancers	Pancreas	Pancrea
7	chr11:76510200-76513800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:76510400-76512200	Weak transcription	Lung	lung
9	chr11:76510400-76512400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:76510400-76512400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:76510400-76513800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:76510600-76513800	Weak transcription	Esophagus	oesophagus
13	chr11:76510600-76513800	Weak transcription	Right Atrium	heart
14	chr11:76510600-76520200	Enhancers	Adipose Nuclei	Adipose
15	chr11:76510800-76512200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:76510800-76512200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:76510800-76512200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:76510800-76512400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:76510800-76512400	Weak transcription	Brain Germinal Matrix	brain
20	chr11:76510800-76512600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:76510800-76512600	Weak transcription	Fetal Lung	lung
22	chr11:76510800-76512600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr11:76510800-76512600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:76510800-76512600	Weak transcription	Osteobl	bone
25	chr11:76510800-76512800	Weak transcription	NHLF	lung
26	chr11:76510800-76513000	Enhancers	Fetal Intestine Small	intestine
27	chr11:76510800-76513600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:76510800-76513600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:76510800-76513600	Weak transcription	Ovary	ovary
30	chr11:76510800-76513600	Weak transcription	Hela-S3	cervix
31	chr11:76510800-76513800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:76510800-76513800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:76510800-76513800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:76510800-76513800	Enhancers	HepG2	liver
35	chr11:76510800-76513800	Weak transcription	NHDF-Ad	bronchial
36	chr11:76510800-76514000	Weak transcription	Fetal Heart	heart
37	chr11:76510800-76514400	Weak transcription	HSMM	muscle
38	chr11:76510800-76514400	Weak transcription	HSMMtube	muscle
39	chr11:76510800-76515600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:76510800-76516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:76510800-76516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:76510800-76516000	Weak transcription	NHEK	skin
43	chr11:76510800-76516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:76510800-76516200	Weak transcription	Left Ventricle	heart
45	chr11:76510800-76516200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:76510800-76517600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:76510800-76518000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:76510800-76518200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:76510800-76518200	Weak transcription	Right Ventricle	heart
50	chr11:76510800-76518200	Weak transcription	NH-A	brain

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