Variant report

Variant	rs56257104
Chromosome Location	chr12:31838823-31838824
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57688887	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303808	1.00[AMR][1000 genomes]
rs73303820	1.00[AMR][1000 genomes]
rs73303823	1.00[AMR][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	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr12:31815200-31840600	Weak transcription	Pancreas	Pancrea
2	chr12:31817400-31850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:31822400-31840600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:31822600-31862000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
6	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:31827400-31855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:31835000-31839200	ZNF genes & repeats	Fetal Thymus	thymus
9	chr12:31835400-31839000	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr12:31835400-31839200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:31835400-31841800	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr12:31835600-31841600	Strong transcription	Thymus	Thymus
13	chr12:31835600-31860200	Weak transcription	Fetal Kidney	kidney
14	chr12:31835800-31854800	Weak transcription	K562	blood
15	chr12:31836000-31842600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:31836000-31857600	Weak transcription	A549	lung
17	chr12:31836200-31840800	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr12:31836400-31840000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:31836600-31839800	Weak transcription	Brain Germinal Matrix	brain
20	chr12:31836800-31839000	Weak transcription	Fetal Heart	heart
21	chr12:31836800-31839200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:31836800-31842400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:31836800-31850400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:31837000-31859400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:31837200-31839400	Weak transcription	Fetal Brain Female	brain
26	chr12:31837200-31840000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:31837200-31845800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:31837200-31846000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:31837200-31846000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:31837200-31846000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:31837200-31850200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:31837200-31850200	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:31837200-31850200	Weak transcription	Brain Substantia Nigra	brain
34	chr12:31837200-31850400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:31837200-31850400	Weak transcription	Adipose Nuclei	Adipose
36	chr12:31837200-31850400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:31837200-31852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:31837200-31854400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:31837200-31860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:31837200-31865000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:31837400-31854200	Weak transcription	HSMMtube	muscle
42	chr12:31837400-31854400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:31837600-31840000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:31837600-31840000	Weak transcription	Brain Angular Gyrus	brain
45	chr12:31837600-31840800	Weak transcription	Liver	Liver
46	chr12:31837800-31839400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:31837800-31840000	Weak transcription	Left Ventricle	heart
48	chr12:31837800-31843200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:31837800-31846000	Weak transcription	Ovary	ovary
50	chr12:31838000-31839000	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links