Variant report

Variant	rs1685356
Chromosome Location	chr11:73712859-73712860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73693160..73695633-chr11:73711332..73713417,2	K562	blood:

Variant related genes	Relation type
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1685355	0.88[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1726745	0.89[CEU][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1726751	0.82[MKK][hapmap]
rs2075577	0.92[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs588097	0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs590336	0.89[CEU][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs631551	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs635441	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs647126	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs680307	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs682602	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7926165	0.89[CEU][hapmap];0.85[AMR][1000 genomes];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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1685356	RP11-702H23.4	cis	Thyroid	GTEx
rs1685356	PAAF1	cis	lymphoblastoid	seeQTL
rs1685356	MRPL48	cis	cerebellum	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73703000-73719400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:73706000-73713800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:73706800-73713600	Weak transcription	Liver	Liver
4	chr11:73706800-73713800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:73707000-73714400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:73707200-73713600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:73707200-73714800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:73707400-73713200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:73707400-73719800	Weak transcription	Dnd41	blood
10	chr11:73708000-73717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:73708200-73713600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:73708600-73714800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:73708800-73713400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:73708800-73714400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:73708800-73729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:73709000-73713200	Weak transcription	A549	lung
17	chr11:73709000-73714200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:73709000-73714400	Weak transcription	Gastric	stomach
19	chr11:73709000-73724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:73709200-73713000	Weak transcription	Aorta	Aorta
21	chr11:73709400-73714200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:73709400-73716600	Weak transcription	Small Intestine	intestine
23	chr11:73709800-73713400	Weak transcription	Brain Substantia Nigra	brain
24	chr11:73709800-73713400	Weak transcription	HSMMtube	muscle
25	chr11:73709800-73714000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:73710000-73713600	Weak transcription	Left Ventricle	heart
27	chr11:73710000-73713800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:73710000-73715800	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:73710200-73728400	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:73710400-73715800	Weak transcription	Fetal Intestine Large	intestine
31	chr11:73710600-73713200	Weak transcription	Adipose Nuclei	Adipose
32	chr11:73710600-73713600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
34	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
35	chr11:73710800-73713000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:73710800-73717000	Enhancers	K562	blood
37	chr11:73710800-73717800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:73710800-73722400	Weak transcription	NHDF-Ad	bronchial
39	chr11:73711000-73713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:73711000-73714400	Weak transcription	Pancreas	Pancrea
41	chr11:73711000-73715000	Strong transcription	Fetal Stomach	stomach
42	chr11:73711000-73715400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:73711000-73715400	Strong transcription	Fetal Intestine Small	intestine
44	chr11:73711000-73718400	Strong transcription	Fetal Brain Female	brain
45	chr11:73711000-73721200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:73711000-73729200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:73711200-73713200	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:73711200-73715000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:73711200-73716200	Weak transcription	GM12878-XiMat	blood
50	chr11:73711200-73718200	Strong transcription	Brain Germinal Matrix	brain

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