Variant report

Variant	rs1824949
Chromosome Location	chr12:122418160-122418161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122415297..122419092-chr12:122458561..122460890,4	MCF-7	breast:
2	chr12:122417398..122419986-chr12:122423812..122426379,2	K562	blood:

Variant related genes	Relation type
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11043275	0.95[ASN][1000 genomes]
rs12829688	0.86[ASN][1000 genomes]
rs2004863	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2004864	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2076860	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2272132	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3741581	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4522209	0.80[EUR][1000 genomes]
rs55778445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57298119	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58025403	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58026220	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58158474	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58516770	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58642707	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59116149	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59178789	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59695002	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60620185	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486792	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6486793	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7138299	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138556	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7294535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294829	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7303779	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7314352	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964151	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs830125	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872781	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs884785	0.84[EUR][1000 genomes]
rs884786	0.81[AMR][1000 genomes];0.84[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122394000-122429800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:122396600-122439200	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122406600-122418200	Weak transcription	Osteobl	bone
4	chr12:122409800-122427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:122409800-122428400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:122409800-122428400	Weak transcription	NHEK	skin
7	chr12:122410000-122428600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:122411600-122418200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:122411600-122418400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:122412800-122430600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:122413200-122428800	Weak transcription	HSMMtube	muscle
12	chr12:122415200-122434800	Weak transcription	Pancreas	Pancrea
13	chr12:122415400-122428400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:122416600-122418200	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:122417000-122418800	Enhancers	Thymus	Thymus
16	chr12:122417000-122419600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:122417000-122422800	Enhancers	Fetal Thymus	thymus
18	chr12:122417200-122418200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:122417200-122418200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:122417200-122418800	Enhancers	Spleen	Spleen
21	chr12:122417200-122419800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:122417200-122419800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:122417600-122419000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:122417800-122418200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr12:122417800-122418200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:122417800-122418200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr12:122417800-122418200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:122417800-122419000	Flanking Active TSS	GM12878-XiMat	blood
29	chr12:122417800-122419000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr12:122417800-122419400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:122418000-122418400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:122418000-122418600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr12:122418000-122418800	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:122418000-122419000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr12:122418000-122419000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:122418000-122419600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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