Variant report

Variant	rs4072304
Chromosome Location	chr12:46826187-46826188
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46822289..46824421-chr12:46826124..46828179,2	MCF-7	breast:
2	chr12:46765214..46768254-chr12:46823583..46826373,3	MCF-7	breast:
3	chr12:46825701..46828001-chr12:46831066..46833593,2	K562	blood:
4	chr12:46778754..46781085-chr12:46824717..46827146,2	MCF-7	breast:
5	chr12:46774613..46778148-chr12:46823214..46828002,7	K562	blood:
6	chr12:46761984..46768014-chr12:46824742..46829089,8	K562	blood:
7	chr12:46760616..46768014-chr12:46824033..46835241,16	K562	blood:
8	chr12:46751526..46753081-chr12:46824348..46827260,2	K562	blood:
9	chr12:46795170..46796773-chr12:46824331..46826710,2	K562	blood:
10	chr12:46775794..46779022-chr12:46824267..46828002,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257496	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000257261	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10748448	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10748450	0.87[EUR][1000 genomes]
rs10785627	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10785628	0.88[EUR][1000 genomes]
rs10785629	0.87[EUR][1000 genomes]
rs10880966	0.86[AMR][1000 genomes]
rs10880967	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10880968	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10880969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880970	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10880971	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880973	0.87[EUR][1000 genomes]
rs11183478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11183483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183484	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11183486	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11183488	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1125909	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11561535	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12099669	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12298616	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12314541	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12319162	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12813763	0.90[AMR][1000 genomes]
rs12814298	0.84[AMR][1000 genomes]
rs12814341	0.90[AMR][1000 genomes]
rs12822345	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12824565	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12832425	0.90[AMR][1000 genomes]
rs12832777	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1472178	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1472179	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1492895	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2131371	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2220727	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2408497	0.85[AMR][1000 genomes]
rs2408498	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2897951	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3936214	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4076247	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4077707	0.86[EUR][1000 genomes]
rs4077708	0.88[EUR][1000 genomes]
rs4258438	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4427617	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768118	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4768119	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768121	0.86[AMR][1000 genomes]
rs4768122	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768123	0.87[EUR][1000 genomes]
rs4768709	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768710	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4768711	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4768712	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4768713	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4768714	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4768715	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4768716	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768717	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4768718	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4768719	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4768723	0.88[EUR][1000 genomes]
rs4768724	0.87[EUR][1000 genomes]
rs4768725	0.87[EUR][1000 genomes]
rs6582641	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6582642	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6582643	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6582645	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6582646	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6582657	0.87[EUR][1000 genomes]
rs6582658	0.87[EUR][1000 genomes]
rs7134289	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7301001	0.86[AMR][1000 genomes]
rs7311504	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7312259	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7485580	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7485599	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7486495	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7486532	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7486580	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7486596	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7487828	0.91[AMR][1000 genomes]
rs7487877	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7488450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7489242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7959731	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7968897	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7976280	0.85[AMR][1000 genomes]
rs9669404	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9971879	0.91[AMR][1000 genomes];0.98[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	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
2	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
3	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
4	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46820000-46830600	Weak transcription	Ovary	ovary
2	chr12:46821600-46827600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:46821600-46848600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:46822400-46826800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:46822400-46833600	Enhancers	Hela-S3	cervix
6	chr12:46822800-46826600	Enhancers	NHDF-Ad	bronchial
7	chr12:46823000-46826600	Enhancers	HMEC	breast
8	chr12:46823400-46826400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:46823400-46826400	Enhancers	NHLF	lung
10	chr12:46823400-46826600	Enhancers	Osteobl	bone
11	chr12:46823600-46826400	Enhancers	HSMM	muscle
12	chr12:46823600-46826600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:46824000-46826200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:46824000-46826400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:46824000-46826400	Enhancers	Adipose Nuclei	Adipose
16	chr12:46824000-46826400	Enhancers	Fetal Intestine Small	intestine
17	chr12:46824000-46826400	Enhancers	Fetal Kidney	kidney
18	chr12:46824000-46826400	Enhancers	Fetal Lung	lung
19	chr12:46824200-46826400	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:46824200-46826400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:46824200-46826400	Enhancers	Fetal Heart	heart
22	chr12:46824200-46826400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:46824200-46826400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:46824600-46826400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:46824600-46826400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:46824600-46826400	Enhancers	Fetal Stomach	stomach
27	chr12:46824600-46826600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr12:46824600-46828600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:46824800-46826400	Enhancers	HepG2	liver
30	chr12:46824800-46826400	Enhancers	NH-A	brain
31	chr12:46824800-46826600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:46824800-46827600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:46825200-46826200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:46825200-46826200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr12:46825200-46826400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:46825200-46826400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:46825200-46826400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:46825200-46826400	Enhancers	Fetal Muscle Leg	muscle
39	chr12:46825200-46826400	Enhancers	Rectal Smooth Muscle	rectum
40	chr12:46825200-46826400	Flanking Active TSS	A549	lung
41	chr12:46825400-46826400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:46825400-46826400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr12:46825400-46826400	Enhancers	HSMMtube	muscle
44	chr12:46825400-46826400	Flanking Active TSS	K562	blood
45	chr12:46825400-46830600	Weak transcription	Left Ventricle	heart
46	chr12:46825400-46844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:46825600-46826200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:46825600-46843800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:46825800-46826200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:46825800-46826400	Enhancers	Psoas Muscle	Psoas

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