Variant report

Variant	rs56935296
Chromosome Location	chr12:56967681-56967682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56880766..56883726-chr12:56966703..56969405,2	MCF-7	breast:
2	chr12:56907179..56908189-chr12:56966615..56967735,8	MCF-7	breast:
3	chr12:56907303..56908109-chr12:56966932..56967838,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135423	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11833204	1.00[EUR][1000 genomes]
rs11836504	1.00[EUR][1000 genomes]
rs59950664	1.00[EUR][1000 genomes]
rs73335208	1.00[EUR][1000 genomes]
rs74091895	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv899106	chr12:56905558-57004668	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv526706	chr12:56961932-56988342	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56948600-56981200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:56950800-56975000	Weak transcription	Esophagus	oesophagus
3	chr12:56952600-56974800	Weak transcription	Pancreas	Pancrea
4	chr12:56953200-56981200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:56954400-56974800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:56954600-56993400	Weak transcription	Fetal Brain Male	brain
7	chr12:56956000-56968800	Strong transcription	NHEK	skin
8	chr12:56956200-56970400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:56956600-56975000	Weak transcription	Gastric	stomach
10	chr12:56959400-56970000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:56959600-56975000	Weak transcription	Right Ventricle	heart
12	chr12:56959800-56970400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:56959800-56971800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:56959800-56974800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:56959800-56975000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:56959800-56981400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:56960000-56968000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:56960000-56974800	Weak transcription	Aorta	Aorta
19	chr12:56960000-56975000	Weak transcription	Small Intestine	intestine
20	chr12:56960000-56975200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:56960000-56975800	Weak transcription	Colonic Mucosa	Colon
22	chr12:56960000-56976000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:56960000-56981000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:56960000-56981200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:56960000-56981200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:56960000-56981200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:56960000-56981200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:56960000-56987600	Weak transcription	Fetal Heart	heart
29	chr12:56960400-56981000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:56961600-56981200	Weak transcription	Brain Angular Gyrus	brain
31	chr12:56962200-56975000	Weak transcription	Ovary	ovary
32	chr12:56962800-56969600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:56963600-56968800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:56964000-56967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:56964000-56970800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:56964000-56973600	Weak transcription	NHDF-Ad	bronchial
37	chr12:56964000-56974800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:56964000-56975400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:56964000-56980600	Weak transcription	Brain Anterior Caudate	brain
40	chr12:56964000-56981200	Weak transcription	Liver	Liver
41	chr12:56964000-56987800	Weak transcription	Right Atrium	heart
42	chr12:56964200-56974200	Weak transcription	Spleen	Spleen
43	chr12:56964200-56981200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:56964200-56992600	Weak transcription	Stomach Mucosa	stomach
45	chr12:56964800-56967800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:56965000-56968400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:56965000-56974800	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:56965000-56974800	Weak transcription	Dnd41	blood
49	chr12:56965000-56975000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:56965000-56975200	Weak transcription	Fetal Kidney	kidney

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