Variant report

Variant	rs524280
Chromosome Location	chr10:44861801-44861802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44860292..44861820-chr10:44864843..44866905,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11239017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11239018	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1144471	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1147872	0.89[EUR][1000 genomes]
rs1746039	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs266089	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs266091	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs266094	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs266097	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs266098	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2839685	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2839688	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2839693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2861440	0.90[AMR][1000 genomes];0.90[EUR][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	nsv1038511	chr10:44596885-44870030	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1052337	chr10:44821390-44865015	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1054649	chr10:44848921-44889713	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44838600-44867400	Weak transcription	Spleen	Spleen
2	chr10:44848200-44864600	Weak transcription	Fetal Kidney	kidney
3	chr10:44848200-44865000	Weak transcription	Osteobl	bone
4	chr10:44848400-44865000	Weak transcription	Right Atrium	heart
5	chr10:44848400-44867400	Weak transcription	Adipose Nuclei	Adipose
6	chr10:44848400-44867600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr10:44849400-44869000	Weak transcription	Right Ventricle	heart
8	chr10:44849800-44864800	Weak transcription	Left Ventricle	heart
9	chr10:44850600-44877600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr10:44854000-44865800	Weak transcription	Fetal Intestine Small	intestine
11	chr10:44854200-44862400	Weak transcription	Ovary	ovary
12	chr10:44854200-44867200	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:44854400-44869000	Weak transcription	Brain Substantia Nigra	brain
14	chr10:44854800-44863600	Weak transcription	Fetal Lung	lung
15	chr10:44856200-44865000	Weak transcription	Aorta	Aorta
16	chr10:44858000-44864200	Strong transcription	Fetal Stomach	stomach
17	chr10:44858600-44864600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr10:44858800-44863000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr10:44858800-44866600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:44859000-44862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:44859000-44864200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:44859000-44864800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr10:44859000-44865000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr10:44859000-44865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr10:44859000-44871800	Weak transcription	Psoas Muscle	Psoas
26	chr10:44859200-44864200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr10:44859200-44864600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr10:44859800-44862000	Weak transcription	Fetal Muscle Leg	muscle
29	chr10:44859800-44864600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:44860000-44862400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr10:44860000-44862600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:44860000-44863200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr10:44860000-44879000	Weak transcription	Gastric	stomach
34	chr10:44860200-44864400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:44860200-44864600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr10:44860200-44868800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr10:44860400-44862600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:44860600-44863000	Enhancers	Pancreas	Pancrea
39	chr10:44861400-44869200	Weak transcription	Colonic Mucosa	Colon

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