Variant report

Variant	rs11061601
Chromosome Location	chr12:123551028-123551029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123547288..123551146-chr12:123559107..123563202,4	MCF-7	breast:
2	chr12:123549316..123551097-chr12:123632529..123635148,2	K562	blood:
3	chr12:123547555..123551371-chr12:123552619..123557163,4	MCF-7	breast:
4	chr12:123550533..123552152-chr12:123560273..123563222,2	MCF-7	breast:
5	chr12:123544559..123546655-chr12:123548613..123551754,3	K562	blood:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10219462	0.87[ASN][1000 genomes]
rs10846468	1.00[ASN][1000 genomes]
rs10846469	1.00[ASN][1000 genomes]
rs10846473	1.00[ASN][1000 genomes]
rs10848148	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10848291	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10848363	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848365	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848429	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11057172	1.00[ASN][1000 genomes]
rs11057175	0.82[AMR][1000 genomes]
rs11057180	0.87[ASN][1000 genomes]
rs11060888	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11060932	0.87[ASN][1000 genomes]
rs11060997	0.87[ASN][1000 genomes]
rs11060999	0.87[ASN][1000 genomes]
rs11061166	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061589	1.00[AMR][1000 genomes]
rs11061611	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11061614	0.82[AMR][1000 genomes]
rs11061616	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12229119	0.87[ASN][1000 genomes]
rs12229884	0.87[ASN][1000 genomes]
rs12298355	1.00[ASN][1000 genomes]
rs12302120	0.87[ASN][1000 genomes]
rs12302334	0.91[AMR][1000 genomes]
rs12306711	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12311043	0.87[ASN][1000 genomes]
rs12311134	1.00[ASN][1000 genomes]
rs12318389	0.87[ASN][1000 genomes]
rs12318594	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12319324	0.82[AMR][1000 genomes]
rs12366787	1.00[ASN][1000 genomes]
rs57310784	0.87[ASN][1000 genomes]
rs59002329	0.87[ASN][1000 genomes]
rs73408859	0.87[ASN][1000 genomes]
rs73408862	0.87[ASN][1000 genomes]
rs73408863	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123537800-123551200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:123539600-123552600	Enhancers	Right Ventricle	heart
3	chr12:123541800-123551200	Enhancers	Fetal Muscle Leg	muscle
4	chr12:123542200-123551200	Enhancers	Fetal Muscle Trunk	muscle
5	chr12:123542800-123563800	Enhancers	Left Ventricle	heart
6	chr12:123543000-123551400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:123543200-123552600	Enhancers	Lung	lung
8	chr12:123543400-123551200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr12:123543400-123551400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:123543400-123552600	Enhancers	Right Atrium	heart
11	chr12:123543600-123552600	Enhancers	Brain Hippocampus Middle	brain
12	chr12:123543800-123559000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:123544000-123552800	Enhancers	Psoas Muscle	Psoas
14	chr12:123544000-123559000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:123544600-123554800	Weak transcription	Fetal Lung	lung
16	chr12:123545000-123552200	Enhancers	Primary T cells from cord blood	blood
17	chr12:123546000-123552600	Transcr. at gene 5' and 3'	Thymus	Thymus
18	chr12:123546400-123562400	Enhancers	Liver	Liver
19	chr12:123546600-123551200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:123546600-123552400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:123546800-123551200	Enhancers	Esophagus	oesophagus
22	chr12:123547200-123551400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr12:123547400-123551200	Enhancers	Colonic Mucosa	Colon
24	chr12:123547400-123551600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:123547800-123552600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr12:123548000-123554600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:123548000-123555000	Weak transcription	HUVEC	blood vessel
28	chr12:123548200-123551800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:123548200-123552000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:123548600-123551400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:123549000-123551400	Enhancers	Colon Smooth Muscle	Colon
32	chr12:123549000-123554000	Weak transcription	HMEC	breast
33	chr12:123549000-123554600	Weak transcription	Small Intestine	intestine
34	chr12:123549200-123553600	Weak transcription	Fetal Intestine Large	intestine
35	chr12:123549400-123551400	Genic enhancers	Fetal Stomach	stomach
36	chr12:123549400-123554400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:123549400-123555000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:123549600-123551200	Enhancers	Adipose Nuclei	Adipose
39	chr12:123549600-123551200	Weak transcription	HSMMtube	muscle
40	chr12:123549600-123551400	Enhancers	Brain Anterior Caudate	brain
41	chr12:123549600-123553200	Weak transcription	HepG2	liver
42	chr12:123549600-123554600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:123549600-123555800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr12:123549600-123561000	Weak transcription	Hela-S3	cervix
45	chr12:123549800-123553800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:123549800-123555000	Weak transcription	Fetal Brain Female	brain
47	chr12:123549800-123560000	Weak transcription	Stomach Mucosa	stomach
48	chr12:123550000-123551600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:123550000-123552400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr12:123550000-123555000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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