Variant report

Variant	rs17654847
Chromosome Location	chr4:48048644-48048645
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48043679..48046228-chr4:48047228..48049577,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10938519	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17608481	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17654859	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55658926	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56001502	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59276467	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60653952	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62298964	0.82[AFR][1000 genomes]
rs62300323	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62301679	0.89[EUR][1000 genomes]
rs62301680	0.89[EUR][1000 genomes]
rs62301686	0.86[EUR][1000 genomes]
rs6820083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6857248	0.80[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs73244469	0.81[ASN][1000 genomes]
rs73244479	0.84[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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1006745	chr4:47935250-48052824	Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537083	chr4:47935250-48052824	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48019800-48049800	Weak transcription	Esophagus	oesophagus
2	chr4:48020600-48049600	Weak transcription	Colonic Mucosa	Colon
3	chr4:48034200-48049600	Weak transcription	Pancreas	Pancrea
4	chr4:48038600-48053000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:48041600-48053000	Weak transcription	HMEC	breast
6	chr4:48044600-48049200	Enhancers	Primary B cells from cord blood	blood
7	chr4:48044800-48049200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr4:48044800-48049400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:48045000-48049200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:48045000-48049400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:48045000-48049400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr4:48045200-48049000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:48045400-48052200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:48045800-48048800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr4:48045800-48049000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:48045800-48049400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:48045800-48049600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:48045800-48052600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:48046000-48049000	Weak transcription	Liver	Liver
20	chr4:48046000-48049200	Weak transcription	HepG2	liver
21	chr4:48046000-48049600	Weak transcription	Fetal Intestine Small	intestine
22	chr4:48046200-48049400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr4:48046400-48049000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr4:48046400-48049200	Enhancers	Primary T cells from cord blood	blood
25	chr4:48046400-48050400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr4:48046600-48049000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr4:48047600-48048800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:48047800-48048800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr4:48047800-48049200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr4:48047800-48049400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr4:48048000-48048800	Enhancers	Psoas Muscle	Psoas
32	chr4:48048000-48049200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:48048000-48050400	Enhancers	Fetal Thymus	thymus
34	chr4:48048200-48049000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:48048200-48049400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:48048200-48050400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr4:48048200-48050600	Enhancers	Primary hematopoietic stem cells	blood
38	chr4:48048200-48051400	Enhancers	Fetal Heart	heart
39	chr4:48048400-48049000	Enhancers	GM12878-XiMat	blood
40	chr4:48048400-48049400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr4:48048400-48049600	Weak transcription	Left Ventricle	heart
42	chr4:48048400-48050400	Enhancers	Small Intestine	intestine
43	chr4:48048600-48049000	Weak transcription	Thymus	Thymus
44	chr4:48048600-48049600	Weak transcription	Right Ventricle	heart
45	chr4:48048600-48050200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr4:48048600-48050400	Enhancers	Stomach Mucosa	stomach
47	chr4:48048600-48051200	Enhancers	Primary monocytes fromperipheralblood	blood

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