Variant report

Variant	rs11048364
Chromosome Location	chr12:26130822-26130823
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26111468..26113195-chr12:26128307..26131046,2	MCF-7	breast:
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: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10431215	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10459081	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10771249	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771251	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10771252	0.82[ASN][1000 genomes]
rs10771253	0.82[ASN][1000 genomes]
rs10771255	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10842641	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10842645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842646	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10842647	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842650	0.82[ASN][1000 genomes]
rs10842651	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11048363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048365	0.82[ASN][1000 genomes]
rs11048367	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048368	0.82[ASN][1000 genomes]
rs11048370	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11048374	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12227480	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12811312	0.82[ASN][1000 genomes]
rs1874349	0.82[ASN][1000 genomes]
rs1874351	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1994995	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2643933	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61247260	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6487522	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315752	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7956992	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7963754	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7964657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969486	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7971740	0.82[ASN][1000 genomes]
rs7971906	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7977148	0.82[ASN][1000 genomes]
rs7979763	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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	nsv433521	chr12:26127230-26132785	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	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
6	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:26121000-26131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:26123800-26134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:26123800-26134200	Weak transcription	Gastric	stomach
6	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
8	chr12:26125000-26138600	Weak transcription	Pancreas	Pancrea
9	chr12:26126400-26132200	Weak transcription	HMEC	breast
10	chr12:26126800-26131800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:26126800-26134000	Weak transcription	Aorta	Aorta
12	chr12:26127000-26132000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:26127200-26131800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:26127200-26132200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:26127400-26131600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:26127400-26131800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:26127400-26131800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:26127800-26131600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:26128000-26132400	Enhancers	Rectal Smooth Muscle	rectum
20	chr12:26128200-26131600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:26128200-26131800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:26128200-26133000	Enhancers	Left Ventricle	heart
23	chr12:26128400-26132000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:26128400-26132000	Weak transcription	Fetal Intestine Small	intestine
25	chr12:26128400-26132200	Weak transcription	HUVEC	blood vessel
26	chr12:26129000-26131000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:26129200-26131000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:26129400-26131800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:26129400-26134000	Weak transcription	Spleen	Spleen
30	chr12:26129400-26134200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:26129400-26139400	Weak transcription	Right Ventricle	heart
32	chr12:26129600-26133000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:26129600-26134000	Weak transcription	Esophagus	oesophagus
34	chr12:26129800-26131800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:26129800-26131800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:26129800-26132200	Weak transcription	NHLF	lung
37	chr12:26129800-26133000	Enhancers	Ovary	ovary
38	chr12:26129800-26134400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr12:26129800-26143000	Enhancers	Colon Smooth Muscle	Colon
40	chr12:26130000-26131000	Enhancers	HSMMtube	muscle
41	chr12:26130000-26131000	Genic enhancers	NHDF-Ad	bronchial
42	chr12:26130000-26131600	Enhancers	Stomach Smooth Muscle	stomach
43	chr12:26130000-26132400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr12:26130000-26133200	Enhancers	Brain Anterior Caudate	brain
45	chr12:26130200-26131000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:26130200-26131000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr12:26130200-26131000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:26130200-26131000	Enhancers	Adipose Nuclei	Adipose
49	chr12:26130200-26131000	Enhancers	HSMM	muscle
50	chr12:26130200-26131200	Enhancers	Duodenum Smooth Muscle	Duodenum

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