Variant report

Variant	rs12814341
Chromosome Location	chr12:46823272-46823273
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46785131..46787276-chr12:46823023..46825846,2	K562	blood:
2	chr12:46774613..46778148-chr12:46823214..46828002,7	K562	blood:
3	chr12:46822243..46823929-chr12:46848458..46850020,2	K562	blood:
4	chr12:46822440..46824303-chr12:46827711..46830028,2	K562	blood:
5	chr12:46763886..46766572-chr12:46822155..46824128,3	K562	blood:
6	chr12:46822289..46824421-chr12:46826124..46828179,2	MCF-7	breast:
7	chr12:46775635..46778663-chr12:46823030..46824747,3	MCF-7	breast:
8	chr12:46650913..46653725-chr12:46822184..46824848,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10748448	0.88[AMR][1000 genomes]
rs10785627	0.92[AMR][1000 genomes]
rs10880966	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880967	0.90[AMR][1000 genomes]
rs10880968	0.92[AMR][1000 genomes]
rs10880969	0.90[AMR][1000 genomes]
rs10880970	0.89[AMR][1000 genomes]
rs10880971	0.84[AMR][1000 genomes]
rs11183468	0.92[CEU][hapmap]
rs11183478	0.90[AMR][1000 genomes]
rs11183479	0.90[AMR][1000 genomes]
rs11183483	0.90[AMR][1000 genomes]
rs11183484	0.86[AMR][1000 genomes]
rs11183486	0.85[AMR][1000 genomes]
rs11183488	0.84[AMR][1000 genomes]
rs1125909	0.83[AMR][1000 genomes]
rs11534993	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12099669	0.83[AMR][1000 genomes]
rs12298616	0.84[AMR][1000 genomes]
rs12314541	0.88[AMR][1000 genomes]
rs12319162	0.86[AMR][1000 genomes]
rs12813763	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12814298	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12816358	0.80[CEU][hapmap]
rs12822345	0.86[AMR][1000 genomes]
rs12824565	0.86[AMR][1000 genomes]
rs12827740	0.82[EUR][1000 genomes]
rs12832425	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12832777	0.86[AMR][1000 genomes]
rs1472178	0.83[AMR][1000 genomes]
rs1472179	0.88[AMR][1000 genomes]
rs1492895	0.86[AMR][1000 genomes]
rs2131371	0.85[AMR][1000 genomes]
rs2169030	0.80[CEU][hapmap]
rs2220727	0.84[AMR][1000 genomes]
rs2408497	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2408498	0.86[AMR][1000 genomes]
rs2897951	0.86[AMR][1000 genomes]
rs2897968	0.92[CEU][hapmap]
rs34472481	0.82[EUR][1000 genomes]
rs3782904	0.84[CEU][hapmap]
rs3936214	0.85[AMR][1000 genomes]
rs4072304	0.90[AMR][1000 genomes]
rs4076247	0.89[AMR][1000 genomes]
rs4076248	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs4076484	0.85[EUR][1000 genomes]
rs4258438	0.84[AMR][1000 genomes]
rs4427617	0.85[AMR][1000 genomes]
rs4768118	0.85[AMR][1000 genomes]
rs4768119	0.84[AMR][1000 genomes]
rs4768121	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768122	0.86[AMR][1000 genomes]
rs4768698	0.84[CEU][hapmap]
rs4768709	0.84[AMR][1000 genomes]
rs4768710	0.86[AMR][1000 genomes]
rs4768711	0.85[AMR][1000 genomes]
rs4768712	0.90[AMR][1000 genomes]
rs4768713	0.90[AMR][1000 genomes]
rs4768714	0.90[AMR][1000 genomes]
rs4768715	0.82[AMR][1000 genomes]
rs4768716	0.86[AMR][1000 genomes]
rs4768717	0.89[AMR][1000 genomes]
rs4768718	0.89[AMR][1000 genomes]
rs4768719	0.82[AMR][1000 genomes]
rs6582641	0.84[AMR][1000 genomes]
rs6582645	0.84[AMR][1000 genomes]
rs6582646	0.85[AMR][1000 genomes]
rs6582656	0.92[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs7134289	0.86[AMR][1000 genomes]
rs7301001	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7308910	0.82[EUR][1000 genomes]
rs7311504	0.89[AMR][1000 genomes]
rs7312259	0.85[AMR][1000 genomes]
rs7485580	0.89[AMR][1000 genomes]
rs7485599	0.86[AMR][1000 genomes]
rs7486495	0.92[AMR][1000 genomes]
rs7486532	0.84[AMR][1000 genomes]
rs7486580	0.92[AMR][1000 genomes]
rs7487075	0.92[CEU][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7487828	0.82[AMR][1000 genomes]
rs7487877	0.91[AMR][1000 genomes]
rs7488450	0.90[AMR][1000 genomes]
rs7489242	0.90[AMR][1000 genomes]
rs7959731	0.86[AMR][1000 genomes]
rs7960147	0.84[CEU][hapmap]
rs7961994	0.84[CEU][hapmap]
rs7968173	0.84[CEU][hapmap]
rs7968283	0.84[CEU][hapmap]
rs7968897	0.88[AMR][1000 genomes]
rs7974529	0.84[CEU][hapmap]
rs7976280	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7979418	0.88[CEU][hapmap]
rs956910	0.84[CEU][hapmap]
rs9669404	0.86[AMR][1000 genomes]
rs9971879	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 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	chr12:46810000-46823600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:46820000-46830600	Weak transcription	Ovary	ovary
3	chr12:46820200-46824000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:46820400-46825000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:46821000-46823400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:46821000-46824000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:46821200-46824200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:46821400-46824000	Weak transcription	Primary T cells from cord blood	blood
9	chr12:46821600-46824000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:46821600-46824200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:46821600-46827600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:46821600-46848600	Weak transcription	Primary B cells from cord blood	blood
13	chr12:46821800-46823600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:46821800-46823800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:46821800-46824000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:46822200-46824200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:46822400-46823400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:46822400-46824000	Enhancers	K562	blood
19	chr12:46822400-46825800	Enhancers	Dnd41	blood
20	chr12:46822400-46826800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:46822400-46833600	Enhancers	Hela-S3	cervix
22	chr12:46822800-46823600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:46822800-46823600	Enhancers	A549	lung
24	chr12:46822800-46826600	Enhancers	NHDF-Ad	bronchial
25	chr12:46823000-46823600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:46823000-46824000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:46823000-46824000	Enhancers	HUVEC	blood vessel
28	chr12:46823000-46824000	Enhancers	NHEK	skin
29	chr12:46823000-46824200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:46823000-46824200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:46823000-46826600	Enhancers	HMEC	breast
32	chr12:46823200-46824000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:46823200-46824200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:46823200-46824200	Weak transcription	Fetal Heart	heart
35	chr12:46823200-46824200	Enhancers	HepG2	liver
36	chr12:46823200-46825200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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