Variant report

Variant	rs1678967
Chromosome Location	chr12:122358816-122358817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122356506..122358944-chr12:122464672..122467378,2	MCF-7	breast:
2	chr12:122356337..122361793-chr12:122458841..122462522,5	MCF-7	breast:
3	chr12:122355691..122357856-chr12:122357924..122360707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110987	Chromatin interaction
ENSG00000158023	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10840626	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10840627	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11043222	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11502392	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1154510	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1154513	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1154515	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11614623	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1168674	0.82[AMR][1000 genomes]
rs1169075	0.87[ASN][1000 genomes]
rs1169077	0.88[ASN][1000 genomes]
rs1169080	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1169082	0.81[ASN][1000 genomes]
rs1169085	0.85[ASN][1000 genomes]
rs1169092	0.82[ASN][1000 genomes]
rs1169093	0.82[ASN][1000 genomes]
rs1182927	0.85[ASN][1000 genomes]
rs1185260	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1667580	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1667583	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1667584	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1678951	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1678969	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1720067	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795967	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1916333	0.83[ASN][1000 genomes]
rs1947826	0.86[AMR][1000 genomes]
rs2101017	0.86[AMR][1000 genomes]
rs2230681	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2247139	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2309274	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2596137	0.95[AMR][1000 genomes]
rs2596144	0.86[AMR][1000 genomes]
rs2620332	0.86[AMR][1000 genomes]
rs2620340	0.85[AMR][1000 genomes]
rs2688412	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2707056	0.86[AMR][1000 genomes]
rs4760099	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs493519	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs693277	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7314056	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs830116	0.88[ASN][1000 genomes]
rs830122	0.88[ASN][1000 genomes]
rs830126	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs853758	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs895958	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs895959	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9668191	0.86[AMR][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122354200-122363000	Weak transcription	Small Intestine	intestine
2	chr12:122355600-122364800	Weak transcription	K562	blood
3	chr12:122356000-122362600	Weak transcription	Hela-S3	cervix
4	chr12:122356200-122361600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:122356400-122361800	Weak transcription	HepG2	liver
6	chr12:122356400-122362600	Weak transcription	Ovary	ovary
7	chr12:122356400-122362600	Weak transcription	HMEC	breast
8	chr12:122356400-122363000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:122356600-122362600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:122356600-122362800	Weak transcription	HSMMtube	muscle
11	chr12:122356800-122361200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:122356800-122361600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:122356800-122361600	Weak transcription	A549	lung
14	chr12:122356800-122362600	Weak transcription	Fetal Heart	heart
15	chr12:122356800-122362800	Weak transcription	Left Ventricle	heart
16	chr12:122356800-122362800	Weak transcription	HSMM	muscle
17	chr12:122356800-122363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:122357000-122359000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:122357000-122359000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:122357000-122359800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:122357000-122360200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:122357000-122360200	Weak transcription	Brain Germinal Matrix	brain
23	chr12:122357000-122360400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:122357000-122361400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:122357000-122361400	Weak transcription	GM12878-XiMat	blood
26	chr12:122357000-122361600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:122357000-122361600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:122357000-122361600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:122357000-122361600	Weak transcription	Adipose Nuclei	Adipose
30	chr12:122357000-122361600	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:122357000-122361600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:122357000-122361800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:122357000-122361800	Weak transcription	Placenta	Placenta
34	chr12:122357000-122362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:122357000-122362000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:122357000-122362000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr12:122357000-122362600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:122357000-122362600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:122357000-122362600	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:122357000-122362600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:122357000-122362600	Weak transcription	Fetal Brain Male	brain
42	chr12:122357000-122362600	Weak transcription	Fetal Brain Female	brain
43	chr12:122357000-122362600	Weak transcription	Fetal Intestine Large	intestine
44	chr12:122357000-122362600	Weak transcription	Fetal Intestine Small	intestine
45	chr12:122357000-122362600	Weak transcription	Fetal Stomach	stomach
46	chr12:122357000-122362600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:122357000-122362600	Weak transcription	Right Ventricle	heart
48	chr12:122357000-122362600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr12:122357000-122362600	Weak transcription	Spleen	Spleen
50	chr12:122357000-122362600	Weak transcription	NH-A	brain

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