Variant report

Variant	rs60460386
Chromosome Location	chr1:113252442-113252443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113160602..113163896-chr1:113252357..113259247,7	K562	blood:
2	chr1:113214866..113222565-chr1:113237012..113253952,54	K562	blood:
3	chr1:113156399..113165396-chr1:113241191..113253782,55	MCF-7	breast:
4	chr1:113214590..113222957-chr1:113244863..113253590,39	MCF-7	breast:
5	chr1:113239573..113244483-chr1:113252369..113259292,10	K562	blood:
6	chr1:113167163..113169286-chr1:113251721..113253249,2	K562	blood:
7	chr1:113156746..113166477-chr1:113240630..113253423,46	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000007341	Chromatin interaction
ENSG00000235299	Chromatin interaction
ENSG00000155363	Chromatin interaction
ENSG00000116489	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12085734	1.00[AMR][1000 genomes]
rs59789231	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	esv18511	chr1:113246318-113350775	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv998794	chr1:113246630-113310418	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv872157	chr1:113247467-113265819	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv547566	chr1:113248365-113301657	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv872158	chr1:113250888-113265819	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv872159	chr1:113252091-113265819	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113249000-113256400	Weak transcription	Fetal Heart	heart
2	chr1:113250400-113256000	Weak transcription	Brain Substantia Nigra	brain
3	chr1:113250400-113256000	Weak transcription	Right Ventricle	heart
4	chr1:113250400-113256200	Weak transcription	Esophagus	oesophagus
5	chr1:113250400-113256200	Weak transcription	Gastric	stomach
6	chr1:113250400-113256400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:113250400-113256600	Weak transcription	Brain Angular Gyrus	brain
8	chr1:113250400-113256600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:113250400-113256600	Weak transcription	Psoas Muscle	Psoas
10	chr1:113250400-113256800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:113250400-113256800	Weak transcription	Aorta	Aorta
12	chr1:113250600-113252800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:113250600-113254200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:113250600-113255200	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:113250600-113255800	Weak transcription	Liver	Liver
16	chr1:113250600-113256000	Weak transcription	Adipose Nuclei	Adipose
17	chr1:113250600-113256000	Weak transcription	Brain Anterior Caudate	brain
18	chr1:113250600-113256000	Weak transcription	Left Ventricle	heart
19	chr1:113250600-113256000	Weak transcription	Stomach Mucosa	stomach
20	chr1:113250600-113256200	Weak transcription	Pancreas	Pancrea
21	chr1:113250600-113256200	Weak transcription	Spleen	Spleen
22	chr1:113250600-113256600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:113250600-113256800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:113250600-113257000	Weak transcription	HUVEC	blood vessel
25	chr1:113250800-113252800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:113250800-113253000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:113250800-113253000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:113250800-113254000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:113250800-113255600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:113250800-113256000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:113250800-113256200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:113250800-113256200	Weak transcription	Primary B cells from cord blood	blood
33	chr1:113250800-113256600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:113250800-113256600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:113250800-113256600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:113250800-113256600	Weak transcription	Osteobl	bone
37	chr1:113251000-113256200	Weak transcription	HMEC	breast
38	chr1:113251000-113256400	Weak transcription	NHEK	skin
39	chr1:113251000-113257200	Weak transcription	Hela-S3	cervix
40	chr1:113251200-113252800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:113251200-113254000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:113251400-113256200	Weak transcription	K562	blood
43	chr1:113251400-113256800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:113251800-113253800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:113251800-113254000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:113252000-113253400	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:113252000-113253400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:113252000-113255600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:113252200-113253000	Enhancers	GM12878-XiMat	blood
50	chr1:113252200-113253800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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