Variant report

Variant	rs1060617
Chromosome Location	chr4:8406558-8406559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8405868..8408180-chr4:8410385..8411900,2	K562	blood:
2	chr4:8401144..8403051-chr4:8405027..8406655,2	MCF-7	breast:
3	chr4:8404571..8406655-chr4:8410577..8413639,3	MCF-7	breast:
4	chr4:8404879..8407755-chr4:8409696..8411552,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10029771	1.00[CEU][hapmap]
rs13434465	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16842352	0.87[EUR][1000 genomes]
rs17194220	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17201848	0.87[EUR][1000 genomes]
rs17202499	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17203215	1.00[CEU][hapmap]
rs17203243	0.80[EUR][1000 genomes]
rs17806817	1.00[EUR][1000 genomes]
rs17806883	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17807929	0.87[EUR][1000 genomes]
rs17807994	0.87[EUR][1000 genomes]
rs28507650	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28664136	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61739067	0.84[EUR][1000 genomes]
rs62286002	1.00[EUR][1000 genomes]
rs62286003	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286005	1.00[EUR][1000 genomes]
rs62286035	1.00[EUR][1000 genomes]
rs62286036	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286037	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286038	1.00[EUR][1000 genomes]
rs62286040	1.00[EUR][1000 genomes]
rs62286041	1.00[EUR][1000 genomes]
rs62286042	1.00[EUR][1000 genomes]
rs62286043	1.00[EUR][1000 genomes]
rs62286044	1.00[EUR][1000 genomes]
rs62286047	0.93[EUR][1000 genomes]
rs62286049	0.93[EUR][1000 genomes]
rs62286050	0.93[EUR][1000 genomes]
rs62286052	0.93[EUR][1000 genomes]
rs62286053	0.93[EUR][1000 genomes]
rs62286054	0.93[EUR][1000 genomes]
rs62286055	0.93[EUR][1000 genomes]
rs62286056	0.93[EUR][1000 genomes]
rs62286058	0.84[EUR][1000 genomes]
rs62286059	0.84[EUR][1000 genomes]
rs62287360	0.84[EUR][1000 genomes]
rs62287361	0.84[EUR][1000 genomes]
rs62287362	0.84[EUR][1000 genomes]
rs62287382	0.87[EUR][1000 genomes]
rs62287383	0.87[EUR][1000 genomes]
rs62287384	0.87[EUR][1000 genomes]
rs62287385	0.87[EUR][1000 genomes]
rs62287387	0.87[EUR][1000 genomes]
rs62287390	0.87[EUR][1000 genomes]
rs62287392	0.90[EUR][1000 genomes]
rs62287393	0.87[EUR][1000 genomes]
rs62287394	0.87[EUR][1000 genomes]
rs62287396	0.87[EUR][1000 genomes]
rs62287397	0.80[EUR][1000 genomes]
rs62287399	0.80[EUR][1000 genomes]
rs62287401	0.80[EUR][1000 genomes]
rs62287402	0.80[EUR][1000 genomes]
rs62287405	0.80[EUR][1000 genomes]
rs62287406	0.80[EUR][1000 genomes]
rs62287433	0.80[EUR][1000 genomes]
rs62287434	0.80[EUR][1000 genomes]
rs62287436	0.80[EUR][1000 genomes]
rs747579	1.00[CEU][hapmap]
rs7686109	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs940132	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv878609	chr4:8373832-8407406	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv878610	chr4:8377058-8416976	ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv470014	chr4:8390646-8429817	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv593639	chr4:8394376-8424108	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8366400-8411600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr4:8383800-8419000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:8384800-8418600	Strong transcription	Primary T cells from cord blood	blood
4	chr4:8385200-8411600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:8385600-8407000	Weak transcription	Stomach Mucosa	stomach
6	chr4:8386400-8408400	Strong transcription	Fetal Intestine Large	intestine
7	chr4:8387400-8412000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:8389800-8411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:8394200-8407400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:8394800-8409400	Weak transcription	Small Intestine	intestine
11	chr4:8395800-8411800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:8396600-8407200	Weak transcription	Dnd41	blood
13	chr4:8396600-8419400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:8396800-8412400	Weak transcription	Fetal Brain Male	brain
15	chr4:8396800-8415600	Weak transcription	NH-A	brain
16	chr4:8397000-8406600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:8397600-8409400	Weak transcription	HepG2	liver
18	chr4:8397600-8420400	Weak transcription	NHDF-Ad	bronchial
19	chr4:8397800-8406600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:8398200-8409400	Weak transcription	Primary B cells from cord blood	blood
21	chr4:8399000-8407000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:8399200-8412000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:8399400-8411800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:8399400-8412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:8399600-8407200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:8399600-8407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:8399600-8412000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:8399600-8429400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:8401400-8407000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:8401600-8406600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:8401600-8407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:8401800-8406800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr4:8402800-8408400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:8403000-8406600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:8403000-8406600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:8403000-8408200	Strong transcription	Fetal Brain Female	brain
37	chr4:8403000-8408200	Strong transcription	Pancreas	Pancrea
38	chr4:8403200-8419400	Strong transcription	Fetal Intestine Small	intestine
39	chr4:8403400-8411400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:8403400-8414400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:8403600-8406600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:8403600-8407400	Enhancers	Primary hematopoietic stem cells	blood
43	chr4:8403600-8412200	Strong transcription	Brain Germinal Matrix	brain
44	chr4:8404000-8408000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:8404200-8408200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr4:8404200-8408400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:8404200-8408400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:8404400-8410000	Weak transcription	NHLF	lung
49	chr4:8404600-8406600	Weak transcription	Osteobl	bone
50	chr4:8404600-8406800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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