Variant report

Variant	rs9349275
Chromosome Location	chr6:44111918-44111919
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44109910..44113195-chr6:44121591..44124104,3	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10948121	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12191873	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12199128	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12202501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12206251	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12206795	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2064639	1.00[AFR][1000 genomes]
rs2064640	1.00[AFR][1000 genomes]
rs2092870	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236061	1.00[AFR][1000 genomes]
rs3734696	1.00[EUR][1000 genomes]
rs3734697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4628095	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711764	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4711766	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4714738	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4714750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4714754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4714759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714761	0.99[ASN][1000 genomes]
rs4714762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62401766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62403189	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9349270	1.00[AFR][1000 genomes]
rs9349271	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9349272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9357432	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9369448	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9369449	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9369450	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9369453	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9369454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9369456	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369457	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9369459	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9381287	1.00[AFR][1000 genomes]
rs9381294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394984	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS 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	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44096600-44119400	Weak transcription	Right Atrium	heart
2	chr6:44096800-44119400	Weak transcription	HUVEC	blood vessel
3	chr6:44098000-44114800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:44098000-44119400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:44098000-44119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:44100400-44119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:44101200-44119400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:44101400-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:44101600-44113600	Weak transcription	Hela-S3	cervix
10	chr6:44101600-44118400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:44101800-44112400	Strong transcription	Fetal Brain Female	brain
12	chr6:44101800-44112600	Strong transcription	Brain Germinal Matrix	brain
13	chr6:44101800-44119200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:44101800-44124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:44102000-44113400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:44102000-44115200	Weak transcription	Small Intestine	intestine
17	chr6:44102000-44117600	Weak transcription	Fetal Heart	heart
18	chr6:44102000-44118600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:44102000-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:44102200-44112200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:44102200-44112200	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:44102200-44112400	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:44102200-44112400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr6:44102200-44112400	Strong transcription	NHEK	skin
25	chr6:44102200-44117800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:44102200-44118000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:44102200-44118400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:44102200-44119800	Strong transcription	Fetal Intestine Small	intestine
29	chr6:44102400-44112000	Strong transcription	Lung	lung
30	chr6:44102400-44112400	Strong transcription	Placenta	Placenta
31	chr6:44102400-44112600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:44102400-44113400	Weak transcription	Fetal Brain Male	brain
33	chr6:44102400-44118000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:44102400-44118000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr6:44102400-44118200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr6:44102400-44118200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr6:44102400-44119400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:44102600-44119000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:44102800-44112000	Strong transcription	Brain Cingulate Gyrus	brain
40	chr6:44102800-44112200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:44103000-44118600	Strong transcription	Fetal Intestine Large	intestine
42	chr6:44103600-44119200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:44103600-44119400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr6:44103600-44119400	Strong transcription	Fetal Muscle Leg	muscle
45	chr6:44103800-44124600	Strong transcription	Fetal Stomach	stomach
46	chr6:44104000-44112000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:44104400-44112200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr6:44104600-44112400	Strong transcription	Brain Hippocampus Middle	brain
49	chr6:44104800-44118800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:44105400-44116400	Weak transcription	Fetal Kidney	kidney

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