Variant report

Variant	rs66471233
Chromosome Location	chr17:45867086-45867087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45865807..45868514-chr17:48934567..48937512,3	MCF-7	breast:
2	chr17:45854160..45857127-chr17:45865977..45868516,2	K562	blood:
3	chr17:45860250..45864095-chr17:45867054..45870047,3	MCF-7	breast:
4	chr17:45867067..45868093-chr17:45879443..45880039,3	MCF-7	breast:
5	chr17:45865960..45867506-chr17:49026486..49028392,2	MCF-7	breast:
6	chr17:45857879..45859469-chr17:45866625..45868596,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10445375	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10445376	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079789	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11079790	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11079791	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11079792	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655336	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12325760	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12450729	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12450733	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12451815	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12453955	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12950390	0.86[ASN][1000 genomes]
rs17700008	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17773010	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28589850	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4239165	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4239166	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4793646	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4793647	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4794110	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55745341	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56137679	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56363619	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56387656	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58391889	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59513807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6503855	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67441169	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72831644	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8068453	0.92[ASN][1000 genomes]
rs8071192	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8078052	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908572	chr17:45858487-45900856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45866200-45868000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr17:45866400-45868000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr17:45866600-45867800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr17:45866600-45867800	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr17:45866600-45868000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr17:45866600-45868000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr17:45866800-45867600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr17:45866800-45867600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr17:45866800-45867800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:45866800-45867800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr17:45866800-45867800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:45866800-45868000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr17:45867000-45867200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:45867000-45867200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:45867000-45867200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:45867000-45867200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:45867000-45867200	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
18	chr17:45867000-45867200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
19	chr17:45867000-45867200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:45867000-45867200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr17:45867000-45867200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:45867000-45867200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
23	chr17:45867000-45867200	Enhancers	Aorta	Aorta
24	chr17:45867000-45867200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
25	chr17:45867000-45867200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
26	chr17:45867000-45867200	Bivalent/Poised TSS	Colonic Mucosa	Colon
27	chr17:45867000-45867200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
28	chr17:45867000-45867200	Bivalent Enhancer	Esophagus	oesophagus
29	chr17:45867000-45867200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr17:45867000-45867200	Bivalent Enhancer	Fetal Stomach	stomach
31	chr17:45867000-45867200	Enhancers	Gastric	stomach
32	chr17:45867000-45867200	Bivalent Enhancer	Ovary	ovary
33	chr17:45867000-45867200	Bivalent Enhancer	Psoas Muscle	Psoas
34	chr17:45867000-45867200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr17:45867000-45867200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
36	chr17:45867000-45867200	Bivalent Enhancer	HUVEC	blood vessel
37	chr17:45867000-45867400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr17:45867000-45867400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:45867000-45867400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
40	chr17:45867000-45867400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:45867000-45867400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr17:45867000-45867400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:45867000-45867400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
44	chr17:45867000-45867400	Active TSS	Rectal Smooth Muscle	rectum
45	chr17:45867000-45867400	Active TSS	Right Atrium	heart
46	chr17:45867000-45867400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
47	chr17:45867000-45867600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:45867000-45867600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr17:45867000-45867600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr17:45867000-45867600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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