Variant report

Variant	rs11057243
Chromosome Location	chr12:123771070-123771071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123769740..123772469-chr12:123873331..123875803,2	MCF-7	breast:
2	chr12:123767403..123769003-chr12:123769682..123771189,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199845	Chromatin interaction
ENSG00000183955	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10444447	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10444448	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10773007	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10773009	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10773010	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10773014	0.91[ASN][1000 genomes]
rs10846495	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10846496	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10846498	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10846499	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10846500	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10846501	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10846503	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846504	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846509	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10846510	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10846511	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10846514	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10846518	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10846521	0.91[ASN][1000 genomes]
rs10846522	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10846524	0.91[ASN][1000 genomes]
rs11057231	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11057240	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11057250	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11057264	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11057266	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11057285	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11057286	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12371973	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28376696	0.87[ASN][1000 genomes]
rs28377694	0.91[ASN][1000 genomes]
rs28397122	0.91[ASN][1000 genomes]
rs28454135	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28475177	0.91[ASN][1000 genomes]
rs28573826	0.91[ASN][1000 genomes]
rs28633324	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28646185	0.83[ASN][1000 genomes]
rs28655516	0.91[ASN][1000 genomes]
rs28660661	0.91[ASN][1000 genomes]
rs28861152	0.91[ASN][1000 genomes]
rs28898283	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4281511	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4313613	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61953413	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61955088	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61955089	0.83[ASN][1000 genomes]
rs61955114	0.81[ASN][1000 genomes]
rs61955117	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6488868	0.91[ASN][1000 genomes]
rs73231946	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[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	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats 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	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123757200-123773800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:123757200-123774000	Weak transcription	K562	blood
3	chr12:123757200-123782600	Weak transcription	Right Atrium	heart
4	chr12:123757600-123773400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:123757600-123773400	Weak transcription	Fetal Thymus	thymus
6	chr12:123757600-123773800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:123757800-123771400	Weak transcription	A549	lung
8	chr12:123758000-123771600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:123758000-123773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:123758800-123773400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:123762800-123773400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:123763000-123773800	Weak transcription	Adipose Nuclei	Adipose
13	chr12:123763200-123772800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:123763200-123774000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:123763200-123775800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:123763400-123773200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:123763400-123773400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:123763400-123774000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:123763400-123774600	Weak transcription	Primary B cells from cord blood	blood
20	chr12:123763400-123774600	Weak transcription	HUVEC	blood vessel
21	chr12:123763600-123773200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:123763600-123773400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:123763600-123773400	Weak transcription	GM12878-XiMat	blood
24	chr12:123763600-123774600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:123763800-123773800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:123766000-123771600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:123766200-123780000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:123767000-123773400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:123768400-123773000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:123768800-123772200	Weak transcription	Fetal Intestine Small	intestine
31	chr12:123769600-123772400	Weak transcription	Fetal Stomach	stomach
32	chr12:123769600-123773800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:123769600-123775000	Weak transcription	HepG2	liver
34	chr12:123769800-123778800	Weak transcription	Fetal Kidney	kidney
35	chr12:123770000-123772200	Enhancers	Fetal Brain Male	brain
36	chr12:123770000-123772400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:123770200-123776800	Weak transcription	Spleen	Spleen
38	chr12:123770200-123778400	Weak transcription	Fetal Lung	lung
39	chr12:123770600-123773200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:123770800-123771600	Weak transcription	NH-A	brain
41	chr12:123771000-123773400	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links