Variant report

Variant	rs56730649
Chromosome Location	chr2:58466375-58466376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:58466318-58466483	MCF10A-Er-Src	breast:	n/a	n/a
2	TBL1XR1	chr2:58466276-58466628	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:58463999..58466723-chr2:58466859..58468849,2	K562	blood:
2	chr2:58448319..58453371-chr2:58460380..58466527,5	K562	blood:
3	chr2:58465119..58467411-chr2:58475928..58478281,2	K562	blood:
4	chr2:58269958..58272240-chr2:58464322..58467065,2	K562	blood:
5	chr2:58465064..58466723-chr2:58466859..58468445,2	K562	blood:
6	chr2:58272245..58275889-chr2:58464232..58469335,5	K562	blood:
7	chr2:58444316..58447844-chr2:58463533..58467170,3	K562	blood:
8	chr2:58457766..58459918-chr2:58466362..58468351,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273063	TF binding region
ENSG00000115392	Chromatin interaction
ENSG00000028116	Chromatin interaction
ENSG00000273063	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11125745	0.87[AMR][1000 genomes]
rs11889211	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12469873	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12475594	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13422644	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17049429	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2192690	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4395240	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56705143	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6725148	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6732505	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6735296	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72810360	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72810373	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72812357	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7594702	0.94[ASN][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	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58391000-58467000	Weak transcription	HMEC	breast
2	chr2:58416600-58467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:58432000-58466400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:58438600-58466400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:58439000-58467400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:58440000-58467400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:58440600-58467400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:58452000-58467400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:58452000-58467400	Weak transcription	NHLF	lung
10	chr2:58453800-58467400	Weak transcription	NHDF-Ad	bronchial
11	chr2:58454600-58466800	Weak transcription	HSMM	muscle
12	chr2:58454800-58466400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:58454800-58467400	Weak transcription	Primary B cells from cord blood	blood
14	chr2:58454800-58467400	Weak transcription	Fetal Thymus	thymus
15	chr2:58454800-58467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:58454800-58467400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:58454800-58467400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:58455000-58466800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:58455000-58466800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:58455000-58467400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:58455000-58467400	Weak transcription	Fetal Stomach	stomach
22	chr2:58455000-58467400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:58455000-58467600	Weak transcription	Left Ventricle	heart
24	chr2:58455000-58467600	Weak transcription	Ovary	ovary
25	chr2:58455000-58468000	Weak transcription	Gastric	stomach
26	chr2:58455000-58468000	Weak transcription	Spleen	Spleen
27	chr2:58455200-58467400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:58455200-58467400	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:58460800-58467400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:58461000-58467800	Weak transcription	Small Intestine	intestine
31	chr2:58462000-58467200	Weak transcription	Osteobl	bone
32	chr2:58462400-58467400	Weak transcription	Fetal Heart	heart
33	chr2:58462600-58466400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:58462600-58466400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:58462600-58466800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:58462600-58466800	Weak transcription	Brain Substantia Nigra	brain
37	chr2:58462600-58467400	Weak transcription	Pancreas	Pancrea
38	chr2:58463600-58467400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:58464200-58467000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:58464800-58467200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:58465000-58467000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr2:58465000-58467200	Enhancers	NHEK	skin
43	chr2:58465000-58467400	Enhancers	Brain Hippocampus Middle	brain
44	chr2:58465000-58467600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr2:58465200-58466400	Weak transcription	Fetal Brain Male	brain
46	chr2:58465400-58466600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:58465400-58466800	Weak transcription	Fetal Intestine Large	intestine
48	chr2:58465400-58467600	Weak transcription	Thymus	Thymus
49	chr2:58465400-58467800	Weak transcription	Aorta	Aorta
50	chr2:58465600-58467400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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