Variant report

Variant	rs9369457
Chromosome Location	chr6:44116992-44116993
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44116110..44119401-chr6:44222719..44226168,3	MCF-7	breast:
2	chr6:44116664..44118179-chr6:44121311..44123694,2	MCF-7	breast:
3	chr6:44093185..44096453-chr6:44116790..44121295,7	MCF-7	breast:
4	chr6:44116712..44124292-chr6:44220837..44227181,13	K562	blood:
5	chr6:44113768..44117098-chr6:44117855..44119857,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265700	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000157593	Chromatin interaction

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]
rs12191873	1.00[AFR][1000 genomes]
rs12199128	0.82[AMR][1000 genomes]
rs12202501	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12206251	0.82[AMR][1000 genomes]
rs12206795	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2064639	1.00[AFR][1000 genomes]
rs2064640	1.00[AFR][1000 genomes]
rs2092870	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2236061	1.00[AFR][1000 genomes]
rs3734696	0.88[EUR][1000 genomes]
rs3734697	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4628095	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4711764	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4711766	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4714738	1.00[AFR][1000 genomes]
rs4714750	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4714754	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4714759	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4714761	0.91[ASN][1000 genomes]
rs4714762	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62401766	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62403189	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9349270	1.00[AFR][1000 genomes]
rs9349271	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9349272	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9349275	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9357432	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9369448	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9369449	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9369450	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9369453	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9369454	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9369456	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9369459	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9381287	1.00[AFR][1000 genomes]
rs9381294	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394984	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[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	chr6:44098000-44119400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:44098000-44119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:44100400-44119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:44101200-44119400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:44101400-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:44101600-44118400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:44101800-44119200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:44101800-44124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:44102000-44117600	Weak transcription	Fetal Heart	heart
12	chr6:44102000-44118600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:44102000-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:44102200-44117800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:44102200-44118000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:44102200-44118400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:44102200-44119800	Strong transcription	Fetal Intestine Small	intestine
18	chr6:44102400-44118000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:44102400-44118000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr6:44102400-44118200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr6:44102400-44118200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr6:44102400-44119400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:44102600-44119000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:44103000-44118600	Strong transcription	Fetal Intestine Large	intestine
25	chr6:44103600-44119200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:44103600-44119400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr6:44103600-44119400	Strong transcription	Fetal Muscle Leg	muscle
28	chr6:44103800-44124600	Strong transcription	Fetal Stomach	stomach
29	chr6:44104800-44118800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:44106400-44118600	Strong transcription	Stomach Smooth Muscle	stomach
31	chr6:44106800-44119400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:44107200-44117800	Strong transcription	Osteobl	bone
33	chr6:44107200-44119000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr6:44107400-44118200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:44108600-44122600	Weak transcription	A549	lung
36	chr6:44109200-44119200	Weak transcription	Stomach Mucosa	stomach
37	chr6:44109800-44124200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr6:44110400-44118200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:44110800-44118200	Strong transcription	Brain Angular Gyrus	brain
40	chr6:44111000-44118400	Strong transcription	Adipose Nuclei	Adipose
41	chr6:44111000-44121000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr6:44112200-44119400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:44113000-44118800	Strong transcription	Liver	Liver
44	chr6:44113200-44117400	Strong transcription	HSMM	muscle
45	chr6:44113200-44117800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:44113200-44117800	Strong transcription	Left Ventricle	heart
47	chr6:44113200-44118000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:44113200-44118000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr6:44113200-44118200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:44113200-44118200	Strong transcription	Monocytes-CD14+_RO01746	blood

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