Variant report

Variant	rs11102484
Chromosome Location	chr1:113051730-113051731
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113051455..113054966-chr1:113056475..113060104,3	MCF-7	breast:
2	chr1:113050916..113052536-chr1:113056260..113057826,2	K562	blood:
3	chr1:113050070..113052532-chr1:113159337..113161675,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134245	Chromatin interaction
ENSG00000007341	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12136566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3790605	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3790606	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3828074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1008375	chr1:113028271-113060221	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1009068	chr1:113048992-113057407	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113050000-113052400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:113050200-113052000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:113050200-113052000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr1:113050200-113052200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr1:113050200-113052200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:113050200-113052200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:113050200-113052200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
8	chr1:113050200-113052400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:113050200-113052400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:113050200-113052400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:113050200-113052800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:113050400-113051800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:113050400-113051800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:113050400-113051800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr1:113050400-113052000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
16	chr1:113050400-113052000	Flanking Active TSS	Right Ventricle	heart
17	chr1:113050400-113052000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
18	chr1:113050400-113052200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
19	chr1:113050400-113052200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:113050400-113052200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:113050400-113052200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:113050400-113052200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:113050400-113052200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr1:113050400-113052400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:113050400-113052400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:113050400-113052800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:113050600-113051800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:113050600-113051800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:113050600-113051800	Active TSS	Aorta	Aorta
30	chr1:113050600-113051800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
31	chr1:113050600-113052000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:113050600-113052000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:113050600-113052000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
34	chr1:113050600-113052000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:113050600-113052000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
36	chr1:113050600-113052000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr1:113050600-113052200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:113050600-113052200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:113050600-113052200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:113050600-113052200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:113050600-113052400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:113050800-113051800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:113050800-113051800	Flanking Bivalent TSS/Enh	NHEK	skin
44	chr1:113050800-113052000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
45	chr1:113050800-113052000	Flanking Active TSS	Gastric	stomach
46	chr1:113050800-113052000	Flanking Active TSS	Pancreas	Pancrea
47	chr1:113050800-113052000	Flanking Bivalent TSS/Enh	HMEC	breast
48	chr1:113050800-113052000	Bivalent/Poised TSS	HSMM	muscle
49	chr1:113050800-113052200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:113050800-113052200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain

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