Variant report

Variant	rs4253009
Chromosome Location	chr10:50741429-50741430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50737860..50742863-chr10:50744224..50749108,7	MCF-7	breast:
2	chr10:50736437..50738904-chr10:50740904..50743447,2	MCF-7	breast:
3	chr10:50735627..50740357-chr10:50740401..50744451,4	K562	blood:

Variant related genes	Relation type
ENSG00000225830	Chromatin interaction
ENSG00000258838	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1012553	0.94[ASN][1000 genomes]
rs1012554	0.94[ASN][1000 genomes]
rs10776574	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10776576	0.89[ASN][1000 genomes]
rs10857501	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10857503	0.84[ASN][1000 genomes]
rs11101140	0.88[ASN][1000 genomes]
rs11101148	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11101153	0.83[ASN][1000 genomes]
rs11101154	0.84[ASN][1000 genomes]
rs11527799	0.84[ASN][1000 genomes]
rs11594945	0.84[ASN][1000 genomes]
rs11815415	0.85[ASN][1000 genomes]
rs12217467	0.83[ASN][1000 genomes]
rs12218455	0.84[ASN][1000 genomes]
rs12218602	0.84[ASN][1000 genomes]
rs12220258	0.85[ASN][1000 genomes]
rs1917799	0.84[ASN][1000 genomes]
rs1917822	0.81[ASN][1000 genomes]
rs1924488	0.89[ASN][1000 genomes]
rs1924489	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2209281	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2228524	0.94[ASN][1000 genomes]
rs2228528	0.93[ASN][1000 genomes]
rs2377938	0.84[EUR][1000 genomes]
rs2889771	0.84[ASN][1000 genomes]
rs2889791	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3750745	0.84[ASN][1000 genomes]
rs3763728	0.83[ASN][1000 genomes]
rs3763730	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3793786	0.93[ASN][1000 genomes]
rs3793788	0.92[ASN][1000 genomes]
rs4012459	0.84[ASN][1000 genomes]
rs4240505	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4240506	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4240507	0.90[ASN][1000 genomes]
rs4240508	0.90[ASN][1000 genomes]
rs4253024	0.94[ASN][1000 genomes]
rs4253082	0.92[ASN][1000 genomes]
rs4253217	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4253226	0.85[ASN][1000 genomes]
rs4838516	0.84[EUR][1000 genomes]
rs4838518	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4838519	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs56002988	0.84[ASN][1000 genomes]
rs57761316	0.84[ASN][1000 genomes]
rs59219652	0.84[ASN][1000 genomes]
rs61288726	0.84[ASN][1000 genomes]
rs6537537	0.85[ASN][1000 genomes]
rs7070896	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7080607	0.84[ASN][1000 genomes]
rs7082895	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7087700	0.90[ASN][1000 genomes]
rs7096755	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7100734	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7899981	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7901433	0.85[ASN][1000 genomes]
rs7904860	0.85[EUR][1000 genomes]
rs7906303	0.84[EUR][1000 genomes]
rs7907557	0.85[EUR][1000 genomes]
rs7908359	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7922756	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7923874	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs932735	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr10:50717200-50746000	Weak transcription	Fetal Heart	heart
2	chr10:50720400-50746200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:50723200-50741800	Strong transcription	Osteobl	bone
4	chr10:50723400-50741600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr10:50723400-50741600	Strong transcription	NHEK	skin
6	chr10:50725000-50746200	Weak transcription	Psoas Muscle	Psoas
7	chr10:50728800-50742000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:50729000-50745800	Weak transcription	Stomach Mucosa	stomach
9	chr10:50729200-50742400	Strong transcription	Hela-S3	cervix
10	chr10:50730000-50746400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:50731600-50746200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr10:50731800-50745800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr10:50732400-50746000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr10:50732600-50746000	Weak transcription	Small Intestine	intestine
15	chr10:50733600-50746000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:50735600-50746200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:50736000-50746000	Weak transcription	A549	lung
18	chr10:50736600-50746000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr10:50737400-50744600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr10:50737600-50744400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr10:50738200-50745800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr10:50738400-50745800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:50738400-50745800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr10:50739400-50741600	Strong transcription	Fetal Muscle Leg	muscle
25	chr10:50739600-50742000	Strong transcription	Fetal Intestine Small	intestine
26	chr10:50739600-50746200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:50740400-50741800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:50740600-50742400	Weak transcription	NH-A	brain
29	chr10:50740600-50745800	Weak transcription	Primary B cells from cord blood	blood
30	chr10:50740600-50746200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr10:50740800-50741600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:50740800-50742000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:50740800-50742400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:50740800-50742400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr10:50740800-50742400	Weak transcription	NHDF-Ad	bronchial
36	chr10:50740800-50742600	Weak transcription	NHLF	lung
37	chr10:50740800-50742800	Weak transcription	Brain Germinal Matrix	brain
38	chr10:50740800-50743000	Weak transcription	Brain Angular Gyrus	brain
39	chr10:50740800-50744600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr10:50740800-50744600	Weak transcription	Brain Substantia Nigra	brain
41	chr10:50740800-50745600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr10:50740800-50745600	Weak transcription	Fetal Brain Male	brain
43	chr10:50740800-50745800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:50740800-50745800	Weak transcription	Fetal Lung	lung
45	chr10:50740800-50746000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr10:50740800-50746000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr10:50740800-50746000	Weak transcription	Colon Smooth Muscle	Colon
48	chr10:50740800-50746000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr10:50740800-50746000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr10:50740800-50746200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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