Variant report

Variant	rs11174669
Chromosome Location	chr12:63207121-63207122
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:62975555..62976174-chr12:63206937..63207657,2	MCF-7	breast:
2	chr12:63196838..63197455-chr12:63206767..63207402,2	MCF-7	breast:
3	chr12:63196043..63196896-chr12:63206741..63207439,2	MCF-7	breast:
4	chr12:63206234..63209842-chr12:63325867..63329850,5	MCF-7	breast:
5	chr12:62831822..62832575-chr12:63207029..63207544,2	MCF-7	breast:
6	chr12:62995726..62998366-chr12:63204238..63207426,3	MCF-7	breast:
7	chr12:63206735..63207639-chr12:63377173..63378137,2	MCF-7	breast:
8	chr12:63205779..63208274-chr12:63327328..63329891,3	MCF-7	breast:
9	chr12:63206702..63209353-chr12:63327262..63329339,2	K562	blood:
10	chr12:63206979..63207548-chr12:63328588..63329252,2	MCF-7	breast:
11	chr12:63206567..63207268-chr12:63462389..63463384,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199179	Chromatin interaction
ENSG00000111110	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000252660	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10506448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10506449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10506450	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877917	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877918	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877919	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877920	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174649	0.84[AMR][1000 genomes]
rs11174650	0.84[AMR][1000 genomes]
rs11174651	0.84[AMR][1000 genomes]
rs11174655	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174656	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174661	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174662	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174664	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174665	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174666	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174667	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174677	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174678	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11174681	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174682	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174684	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174685	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11174689	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11495591	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11615499	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12367672	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12369052	0.88[ASN][1000 genomes]
rs12371724	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17120377	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17735307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1908185	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2663963	1.00[JPT][hapmap]
rs337516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3912983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4378444	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7132872	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73130065	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73130066	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73130069	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73130081	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73130084	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73130086	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73130088	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73130089	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73135674	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73135684	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	esv3374133	chr12:63207117-63207640	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63187800-63211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:63192800-63211400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:63195600-63211400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:63195600-63211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:63195800-63228600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:63196000-63213600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:63196000-63213800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:63196000-63225800	Weak transcription	Gastric	stomach
9	chr12:63196400-63213600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:63201400-63207200	Strong transcription	HepG2	liver
11	chr12:63205800-63207200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:63205800-63211400	Weak transcription	K562	blood
13	chr12:63206200-63207200	Enhancers	NH-A	brain
14	chr12:63206400-63208200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:63206600-63207200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:63206600-63207200	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:63206600-63207200	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr12:63206600-63207200	Enhancers	Left Ventricle	heart
19	chr12:63206600-63207200	Enhancers	Ovary	ovary
20	chr12:63206600-63207200	Enhancers	Psoas Muscle	Psoas
21	chr12:63206600-63207200	Enhancers	Thymus	Thymus
22	chr12:63206600-63207200	Enhancers	A549	lung
23	chr12:63206600-63207200	Flanking Active TSS	Osteobl	bone
24	chr12:63206600-63207400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:63206600-63207400	Enhancers	Fetal Thymus	thymus
26	chr12:63206600-63207600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:63206600-63207600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:63206800-63207200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:63206800-63207200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:63206800-63207200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr12:63206800-63207200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:63206800-63207200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:63206800-63207200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:63206800-63207200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:63206800-63207200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:63206800-63207200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:63206800-63207200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:63206800-63207200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr12:63206800-63207200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:63206800-63207200	Active TSS	Primary B cells from cord blood	blood
41	chr12:63206800-63207200	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr12:63206800-63207200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr12:63206800-63207200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr12:63206800-63207200	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr12:63206800-63207200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr12:63206800-63207200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:63206800-63207200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:63206800-63207200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:63206800-63207200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:63206800-63207200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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