Variant report

Variant	rs9600531
Chromosome Location	chr13:76279366-76279367
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:76279169..76281047-chr13:76286022..76288231,2	MCF-7	breast:
2	chr13:76278980..76279662-chr13:76374280..76374967,2	MCF-7	breast:
3	chr13:76263691..76265417-chr13:76278168..76279745,2	MCF-7	breast:
4	chr13:76278744..76281053-chr13:76282794..76285725,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11843392	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13378446	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13378926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13378927	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570553	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570554	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17064886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28634531	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4497537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55634270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55677829	0.96[EUR][1000 genomes]
rs55912229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56312330	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59605282	0.83[ASN][1000 genomes]
rs73225936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225945	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225951	0.96[EUR][1000 genomes]
rs73225954	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225961	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986928	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7991060	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000108	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000374	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000663	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318366	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318367	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318369	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318370	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318371	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544031	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9565182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565190	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573614	0.87[EUR][1000 genomes]
rs9573615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573616	0.85[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573617	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573619	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573620	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573621	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573622	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573623	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573624	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573628	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573629	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573630	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573631	0.83[ASN][1000 genomes]
rs9593119	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9593122	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600530	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv900579	chr13:76244056-76307981	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76259600-76294400	Weak transcription	Ovary	ovary
2	chr13:76259800-76282200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:76271400-76286000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:76274600-76280400	Genic enhancers	Osteobl	bone
5	chr13:76275600-76279400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:76275800-76281600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:76276600-76281000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:76277200-76280400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:76277200-76280600	Enhancers	NHLF	lung
10	chr13:76277400-76280000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:76277400-76280600	Enhancers	NHDF-Ad	bronchial
12	chr13:76277600-76279600	Enhancers	Placenta	Placenta
13	chr13:76277600-76279800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:76277600-76280400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr13:76277800-76280400	Enhancers	Fetal Lung	lung
16	chr13:76278200-76279400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr13:76278200-76279600	Flanking Active TSS	Hela-S3	cervix
18	chr13:76278200-76280400	Enhancers	Small Intestine	intestine
19	chr13:76278400-76279600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:76278400-76280600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:76278600-76279400	Enhancers	Fetal Muscle Leg	muscle
22	chr13:76278600-76279400	Enhancers	Psoas Muscle	Psoas
23	chr13:76278600-76279400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr13:76278600-76279400	Flanking Active TSS	NH-A	brain
25	chr13:76278600-76279600	Enhancers	Pancreas	Pancrea
26	chr13:76278600-76279800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr13:76278600-76279800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:76278600-76279800	Enhancers	Fetal Intestine Small	intestine
29	chr13:76278600-76280000	Enhancers	Fetal Heart	heart
30	chr13:76278600-76280200	Enhancers	Fetal Intestine Large	intestine
31	chr13:76278600-76280400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr13:76278600-76280400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr13:76278600-76280600	Enhancers	HUVEC	blood vessel
34	chr13:76278600-76280800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:76278600-76280800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:76278800-76279400	Enhancers	Aorta	Aorta
37	chr13:76278800-76280200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr13:76278800-76280200	Flanking Active TSS	NHEK	skin
39	chr13:76279000-76279400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:76279000-76279400	Enhancers	Fetal Muscle Trunk	muscle
41	chr13:76279000-76279400	Enhancers	Left Ventricle	heart
42	chr13:76279000-76279400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr13:76279000-76280400	Flanking Active TSS	A549	lung
44	chr13:76279200-76279400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:76279200-76279400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:76279200-76279400	Enhancers	Esophagus	oesophagus
47	chr13:76279200-76279400	Flanking Active TSS	HSMM	muscle
48	chr13:76279200-76279400	Flanking Active TSS	HSMMtube	muscle
49	chr13:76279200-76279600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:76279200-76279600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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