Variant report

Variant	rs17009560
Chromosome Location	chr4:120977987-120977988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120973210..120976068-chr4:120976112..120978407,2	MCF-7	breast:
2	chr4:120550305..120551270-chr4:120977378..120978356,2	MCF-7	breast:
3	chr4:120970922..120972689-chr4:120977467..120980264,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10004470	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10004481	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010263	1.00[CHB][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011007	1.00[CHB][hapmap]
rs2055744	1.00[CHB][hapmap]
rs28429746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28472949	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685337	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990631	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv879851	chr4:120942372-120984077	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120962200-120987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:120970000-120979600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:120971000-120983200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:120971000-120987400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:120971200-120978000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:120971200-120978200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:120971200-120978200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:120971200-120978200	Weak transcription	K562	blood
9	chr4:120971200-120978400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:120971200-120978400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:120971200-120978600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:120971200-120979400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:120971200-120979600	Weak transcription	HUVEC	blood vessel
14	chr4:120971200-120980200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:120971200-120980800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:120971200-120980800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:120971200-120981400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:120971200-120983200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:120971200-120985200	Weak transcription	Fetal Kidney	kidney
20	chr4:120971200-120985600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:120971200-120986400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:120971200-120986400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:120971200-120986800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:120971200-120987200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:120971200-120987200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:120971200-120987400	Weak transcription	Left Ventricle	heart
27	chr4:120973200-120978200	Weak transcription	Thymus	Thymus
28	chr4:120973400-120979400	Weak transcription	HMEC	breast
29	chr4:120973600-120979600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:120973800-120980600	Weak transcription	HSMM	muscle
31	chr4:120974200-120984000	Weak transcription	Brain Germinal Matrix	brain
32	chr4:120974400-120983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:120974800-120980400	Weak transcription	NH-A	brain
34	chr4:120974800-120980600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:120974800-120983600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:120974800-120983800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:120974800-120984000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:120974800-120984000	Weak transcription	NHLF	lung
39	chr4:120974800-120985200	Weak transcription	NHEK	skin
40	chr4:120975000-120978200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:120975000-120978400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:120975000-120978400	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:120975000-120979400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:120975000-120979400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:120975000-120980600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr4:120975000-120981200	Weak transcription	Osteobl	bone
47	chr4:120975000-120983400	Weak transcription	NHDF-Ad	bronchial
48	chr4:120975000-120984000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:120975000-120985400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:120975000-120985400	Weak transcription	Fetal Stomach	stomach

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