Variant report

Variant	rs1149597
Chromosome Location	chr11:76471616-76471617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76466515..76473526-chr11:76475390..76481084,8	K562	blood:
2	chr11:76470374..76472302-chr11:76493108..76494939,2	MCF-7	breast:
3	chr11:76469781..76471788-chr11:76495168..76497196,2	K562	blood:
4	chr11:76470672..76472933-chr11:76570370..76572778,2	K562	blood:
5	chr11:76471614..76473134-chr11:76481202..76483172,2	K562	blood:

Variant related genes	Relation type
ENSG00000254632	Chromatin interaction
ENSG00000078124	Chromatin interaction
ENSG00000255100	Chromatin interaction
ENSG00000182704	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1149596	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1149599	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1149605	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1149606	0.83[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1149609	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1149610	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1149614	0.81[EUR][1000 genomes]
rs1149615	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs1149616	0.89[CEU][hapmap]
rs1149618	1.00[ASW][hapmap];0.89[CEU][hapmap]
rs1224955	1.00[ASW][hapmap];0.84[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12577786	1.00[ASW][hapmap]
rs34909318	0.84[EUR][1000 genomes]
rs3740776	0.89[EUR][1000 genomes]
rs3740777	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs733454	1.00[ASW][hapmap]
rs881930	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1149597	RP11-21L23.3	cis	Adipose Subcutaneous	GTEx
rs1149597	GUCY2EP	cis	Adipose Subcutaneous	GTEx
rs1149597	RP11-672A2.1	cis	Adipose Subcutaneous	GTEx
rs1149597	ACER3	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76457000-76474600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:76461000-76473800	Weak transcription	Small Intestine	intestine
3	chr11:76464200-76473600	Weak transcription	Right Ventricle	heart
4	chr11:76464800-76474000	Weak transcription	Left Ventricle	heart
5	chr11:76464800-76474000	Weak transcription	Spleen	Spleen
6	chr11:76464800-76474200	Weak transcription	Fetal Lung	lung
7	chr11:76465200-76473800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:76465400-76474200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:76467800-76478400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:76468000-76474400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:76468200-76474200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:76468800-76474400	Weak transcription	HSMMtube	muscle
13	chr11:76469000-76472600	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:76469200-76473400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:76469600-76473000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:76470000-76475000	Weak transcription	Fetal Brain Female	brain
17	chr11:76470200-76474800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:76470200-76479000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:76470400-76474400	Weak transcription	Placenta	Placenta
20	chr11:76470400-76475000	Weak transcription	Fetal Brain Male	brain
21	chr11:76470600-76472200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:76470600-76472200	Enhancers	A549	lung
23	chr11:76470600-76482000	Weak transcription	Psoas Muscle	Psoas
24	chr11:76470800-76472400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:76471000-76471800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:76471000-76475000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:76471200-76471800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:76471200-76473000	Enhancers	Fetal Muscle Trunk	muscle
29	chr11:76471200-76474000	Weak transcription	Stomach Mucosa	stomach
30	chr11:76471400-76473600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:76471600-76472000	Weak transcription	Esophagus	oesophagus
32	chr11:76471600-76472200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:76471600-76474800	Weak transcription	K562	blood
34	chr11:76471600-76475000	Weak transcription	Fetal Heart	heart

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