Variant report

Variant	rs60068645
Chromosome Location	chr5:126256833-126256834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:126256427-126257543	K562	blood:	n/a	n/a

Variant related genes	Relation type
MARCH3	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57906418	0.90[AFR][1000 genomes]
rs57985342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58894799	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126244400-126257000	Weak transcription	Fetal Thymus	thymus
2	chr5:126244400-126261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:126246200-126259800	Weak transcription	Fetal Kidney	kidney
4	chr5:126247800-126257200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:126248000-126257000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:126251000-126257800	Weak transcription	Ovary	ovary
7	chr5:126253600-126257200	Enhancers	Pancreas	Pancrea
8	chr5:126253600-126300400	Weak transcription	Primary B cells from cord blood	blood
9	chr5:126253800-126257000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:126253800-126257200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr5:126253800-126257400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:126253800-126258000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:126254000-126257000	Weak transcription	Lung	lung
14	chr5:126254000-126258000	Enhancers	Brain Germinal Matrix	brain
15	chr5:126254000-126261800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:126254000-126277800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:126254000-126278800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:126254200-126257200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:126254200-126257800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:126254600-126257000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:126254800-126257200	Enhancers	Fetal Brain Male	brain
22	chr5:126254800-126257400	Enhancers	Brain Anterior Caudate	brain
23	chr5:126255000-126258000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:126255000-126258000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:126255000-126258000	Enhancers	Fetal Muscle Leg	muscle
26	chr5:126255200-126257200	Enhancers	Psoas Muscle	Psoas
27	chr5:126255200-126257800	Enhancers	Fetal Lung	lung
28	chr5:126255400-126257000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:126255400-126257000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:126255400-126257400	Enhancers	Brain Substantia Nigra	brain
31	chr5:126255400-126257800	Enhancers	Brain Hippocampus Middle	brain
32	chr5:126255400-126258200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:126255400-126272400	Weak transcription	HSMM	muscle
34	chr5:126255600-126257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:126255600-126257000	Enhancers	Fetal Stomach	stomach
36	chr5:126255600-126263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:126255600-126272400	Weak transcription	HSMMtube	muscle
38	chr5:126256000-126257400	Enhancers	K562	blood
39	chr5:126256000-126257600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:126256000-126257600	Enhancers	Brain Cingulate Gyrus	brain
41	chr5:126256000-126258000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr5:126256000-126258200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:126256200-126257000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:126256200-126257000	Enhancers	Colon Smooth Muscle	Colon
45	chr5:126256200-126257400	Enhancers	Brain Angular Gyrus	brain
46	chr5:126256200-126258000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr5:126256200-126258000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr5:126256200-126258000	Enhancers	Primary hematopoietic stem cells	blood
49	chr5:126256200-126258000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:126256200-126259000	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links