Variant report

Variant	rs11048365
Chromosome Location	chr12:26133010-26133011
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26126535..26128454-chr12:26132809..26134349,2	K562	blood:
2	chr12:26108836..26112964-chr12:26130309..26134148,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246695	Chromatin interaction
ENSG00000123094	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10771249	0.81[ASN][1000 genomes]
rs10771250	0.94[JPT][hapmap]
rs10771251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771256	0.87[ASN][1000 genomes]
rs10842641	0.82[ASN][1000 genomes]
rs10842642	0.81[ASN][1000 genomes]
rs10842645	0.82[ASN][1000 genomes]
rs10842646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842647	0.82[ASN][1000 genomes]
rs10842648	0.82[ASN][1000 genomes]
rs10842650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048363	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs11048364	0.82[ASN][1000 genomes]
rs11048367	0.82[ASN][1000 genomes]
rs11048368	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048385	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12811312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1797944	0.81[CEU][hapmap]
rs1874349	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2063620	1.00[CHB][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6487522	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs706529	0.81[CEU][hapmap]
rs706536	0.81[CEU][hapmap]
rs7964657	0.82[ASN][1000 genomes]
rs7971740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977148	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979763	0.90[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv517117	chr12:26127230-26133925	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26123800-26134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:26123800-26134200	Weak transcription	Gastric	stomach
4	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
6	chr12:26125000-26138600	Weak transcription	Pancreas	Pancrea
7	chr12:26126800-26134000	Weak transcription	Aorta	Aorta
8	chr12:26129400-26134000	Weak transcription	Spleen	Spleen
9	chr12:26129400-26134200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:26129400-26139400	Weak transcription	Right Ventricle	heart
11	chr12:26129600-26134000	Weak transcription	Esophagus	oesophagus
12	chr12:26129800-26134400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:26129800-26143000	Enhancers	Colon Smooth Muscle	Colon
14	chr12:26130000-26133200	Enhancers	Brain Anterior Caudate	brain
15	chr12:26130800-26133600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:26130800-26134200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:26131000-26138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:26131000-26139200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:26131000-26145400	Weak transcription	Lung	lung
20	chr12:26131000-26146000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:26131000-26146200	Weak transcription	HSMM	muscle
22	chr12:26131200-26137400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:26131600-26133200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:26131800-26133200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:26131800-26134400	Enhancers	NHDF-Ad	bronchial
26	chr12:26132000-26133200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr12:26132000-26133200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:26132200-26134600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:26132200-26134600	Enhancers	Right Atrium	heart
30	chr12:26132200-26134800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:26132400-26134000	Weak transcription	Fetal Intestine Small	intestine
32	chr12:26132400-26135400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:26132400-26137800	Weak transcription	Brain Angular Gyrus	brain
34	chr12:26132400-26141600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:26132400-26146800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:26132600-26134000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:26132800-26134000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:26132800-26134200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:26132800-26137200	Weak transcription	Psoas Muscle	Psoas
40	chr12:26132800-26137800	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:26132800-26137800	Weak transcription	Fetal Lung	lung
42	chr12:26132800-26138000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:26132800-26138000	Weak transcription	Brain Substantia Nigra	brain
44	chr12:26132800-26138200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:26133000-26134000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:26133000-26134000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:26133000-26134000	Weak transcription	Left Ventricle	heart
48	chr12:26133000-26134200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:26133000-26134200	Weak transcription	Ovary	ovary
50	chr12:26133000-26135400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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