Variant report

Variant	rs55736565
Chromosome Location	chr12:123556575-123556576
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123555442..123558076-chr12:123754275..123756423,2	MCF-7	breast:
2	chr12:123547555..123551371-chr12:123552619..123557163,4	MCF-7	breast:
3	chr12:123554268..123556802-chr12:123557942..123561055,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction
ENSG00000111328	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs56315722	0.87[EUR][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123542800-123563800	Enhancers	Left Ventricle	heart
2	chr12:123543800-123559000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:123544000-123559000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:123546400-123562400	Enhancers	Liver	Liver
5	chr12:123549600-123561000	Weak transcription	Hela-S3	cervix
6	chr12:123549800-123560000	Weak transcription	Stomach Mucosa	stomach
7	chr12:123550000-123559800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
8	chr12:123550000-123562400	Enhancers	Fetal Heart	heart
9	chr12:123550600-123559400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:123551000-123559000	Weak transcription	Primary B cells from cord blood	blood
11	chr12:123551000-123559200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:123551000-123560200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:123551200-123560400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:123551200-123561800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:123551400-123557600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:123551600-123557800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:123553200-123556600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr12:123553400-123557400	Enhancers	Lung	lung
19	chr12:123553600-123560000	Transcr. at gene 5' and 3'	Thymus	Thymus
20	chr12:123553800-123556800	Enhancers	Adipose Nuclei	Adipose
21	chr12:123553800-123557400	Enhancers	Brain Cingulate Gyrus	brain
22	chr12:123553800-123563800	Enhancers	Right Ventricle	heart
23	chr12:123554000-123557000	Enhancers	Spleen	Spleen
24	chr12:123554000-123559200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:123554000-123563000	Enhancers	Right Atrium	heart
26	chr12:123554000-123563800	Enhancers	Brain Hippocampus Middle	brain
27	chr12:123554200-123557400	Enhancers	Brain Angular Gyrus	brain
28	chr12:123554200-123557400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:123554200-123557400	Enhancers	Fetal Muscle Leg	muscle
30	chr12:123554400-123556600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:123554400-123556800	Enhancers	Fetal Muscle Trunk	muscle
32	chr12:123554400-123557000	Enhancers	Stomach Smooth Muscle	stomach
33	chr12:123554400-123557200	Enhancers	Brain Anterior Caudate	brain
34	chr12:123554400-123557400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr12:123554400-123557600	Enhancers	Esophagus	oesophagus
36	chr12:123554400-123558400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr12:123554400-123560400	Enhancers	Colon Smooth Muscle	Colon
38	chr12:123554600-123556800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:123554600-123556800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:123554600-123556800	Enhancers	NHEK	skin
41	chr12:123554600-123557000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr12:123554600-123557000	Enhancers	Rectal Smooth Muscle	rectum
43	chr12:123554600-123559000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr12:123554800-123556800	Enhancers	NHDF-Ad	bronchial
45	chr12:123555000-123556800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:123555000-123557200	Enhancers	Psoas Muscle	Psoas
47	chr12:123555000-123557800	Enhancers	Fetal Stomach	stomach
48	chr12:123555000-123558800	Enhancers	Fetal Brain Female	brain
49	chr12:123555000-123559000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:123555000-123559200	Enhancers	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links