Variant report

Variant	rs12222735
Chromosome Location	chr11:76600998-76600999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76572318..76575156-chr11:76600227..76602502,2	K562	blood:
2	chr11:76570605..76573818-chr11:76600587..76602502,3	K562	blood:
3	chr11:76595561..76597799-chr11:76599366..76601311,2	K562	blood:

Variant related genes	Relation type
ENSG00000078124	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10899304	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899306	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899326	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10899331	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10899339	0.82[CEU][hapmap];1.00[YRI][hapmap]
rs11236980	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236981	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236992	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11237010	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11237013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11237017	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11237048	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11237053	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12222780	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12226468	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1561647	0.90[CHB][hapmap]
rs17135325	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs60495644	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72639138	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72639139	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72639140	0.81[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	nsv518920	chr11:76573016-76637651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76573200-76601400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr11:76581000-76602200	Weak transcription	Primary B cells from cord blood	blood
3	chr11:76581200-76613400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:76594800-76602600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:76595400-76602800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:76596800-76601000	Weak transcription	Placenta	Placenta
7	chr11:76596800-76603000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:76596800-76614600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:76597000-76601400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:76597000-76603000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:76597000-76605200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:76597000-76631000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:76597400-76602400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:76597400-76603400	Weak transcription	Adipose Nuclei	Adipose
15	chr11:76597400-76611200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:76597600-76613600	Weak transcription	NHEK	skin
17	chr11:76597800-76614200	Weak transcription	HMEC	breast
18	chr11:76598200-76603200	Enhancers	Brain Substantia Nigra	brain
19	chr11:76599000-76601800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:76599400-76604400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr11:76599600-76601000	Enhancers	Brain Hippocampus Middle	brain
22	chr11:76599600-76601400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:76599600-76601600	Enhancers	Brain Anterior Caudate	brain
24	chr11:76599800-76603000	Enhancers	NHDF-Ad	bronchial
25	chr11:76600000-76601000	Enhancers	HepG2	liver
26	chr11:76600000-76601200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:76600000-76601600	Weak transcription	Brain Angular Gyrus	brain
28	chr11:76600000-76602600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:76600200-76601200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:76600200-76602400	Weak transcription	A549	lung
31	chr11:76600200-76602600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:76600200-76613600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:76600400-76602400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr11:76600600-76601000	Weak transcription	Fetal Intestine Small	intestine
35	chr11:76600600-76601600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:76600600-76605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:76600800-76601400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:76600800-76602400	Weak transcription	Brain Germinal Matrix	brain
39	chr11:76600800-76602400	Weak transcription	HUVEC	blood vessel
40	chr11:76600800-76602400	Weak transcription	K562	blood
41	chr11:76600800-76616800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:76600800-76617200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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