Variant report

Variant	rs12275447
Chromosome Location	chr11:9224221-9224222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9223982..9226353-chr11:9228182..9230083,2	K562	blood:
2	chr11:9224063..9226510-chr11:9410318..9412693,2	K562	blood:
3	chr11:9222096..9225077-chr8:101946856..101949796,2	K562	blood:
4	chr11:9223393..9225433-chr11:9231691..9234653,2	K562	blood:

Variant related genes	Relation type
ENSG00000164924	Chromatin interaction
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10466509	0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs11042206	0.83[AMR][1000 genomes]
rs12273976	0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs12285553	0.83[AMR][1000 genomes]
rs12286174	0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs12291263	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9162000-9230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
3	chr11:9171800-9230200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:9172000-9230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:9174000-9225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:9182400-9225000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:9182400-9231800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:9198400-9224600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:9199800-9230400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:9200000-9225200	Weak transcription	Thymus	Thymus
11	chr11:9200200-9224800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:9200600-9224800	Weak transcription	Lung	lung
13	chr11:9200600-9224800	Weak transcription	Psoas Muscle	Psoas
14	chr11:9200600-9229000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:9200600-9230400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr11:9201000-9230800	Weak transcription	HMEC	breast
17	chr11:9202400-9224600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr11:9202400-9225000	Weak transcription	NHEK	skin
19	chr11:9202600-9225000	Weak transcription	Aorta	Aorta
20	chr11:9202600-9251200	Weak transcription	Small Intestine	intestine
21	chr11:9202800-9224800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:9203000-9224800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:9203200-9225000	Weak transcription	Right Ventricle	heart
24	chr11:9203200-9227200	Weak transcription	Right Atrium	heart
25	chr11:9203600-9225200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:9207400-9225200	Weak transcription	Gastric	stomach
27	chr11:9209400-9225200	Weak transcription	Brain Angular Gyrus	brain
28	chr11:9210800-9224600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:9211200-9224800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:9211200-9225000	Weak transcription	Spleen	Spleen
31	chr11:9212000-9224800	Weak transcription	Fetal Intestine Large	intestine
32	chr11:9212800-9224800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:9213000-9225200	Weak transcription	Fetal Intestine Small	intestine
34	chr11:9213200-9224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:9213200-9225000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:9214000-9225000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:9214000-9227600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:9214800-9224800	Weak transcription	Fetal Thymus	thymus
39	chr11:9215200-9224600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:9215200-9224600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:9215200-9224800	Weak transcription	GM12878-XiMat	blood
42	chr11:9215400-9224600	Weak transcription	HUVEC	blood vessel
43	chr11:9215400-9224800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:9215400-9224800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:9215400-9224800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:9215400-9224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:9215400-9225000	Weak transcription	Fetal Brain Female	brain
48	chr11:9215400-9228400	Weak transcription	A549	lung
49	chr11:9215600-9224800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:9215600-9224800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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