Variant report

Variant	rs17258579
Chromosome Location	chr1:120469077-120469078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120467969..120469676-chr1:120469960..120472021,2	MCF-7	breast:
2	chr1:120461841..120464545-chr1:120468138..120469880,2	MCF-7	breast:
3	chr1:120466619..120469104-chr1:120488906..120491795,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10802138	1.00[YRI][hapmap]
rs4659247	1.00[YRI][hapmap]
rs7539526	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv533996	chr1:120359524-120471049	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv436325	chr1:120390914-120471049	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv2610	chr1:120451060-120471049	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120448200-120471000	Weak transcription	Right Atrium	heart
2	chr1:120450000-120473000	Strong transcription	HSMM	muscle
3	chr1:120451600-120480000	Weak transcription	Psoas Muscle	Psoas
4	chr1:120452000-120485600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:120452600-120472800	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:120453000-120473200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:120453000-120476400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:120453000-120483600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:120453200-120475600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:120453400-120472600	Strong transcription	Osteobl	bone
11	chr1:120453400-120476400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:120454200-120469200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:120454400-120471600	Strong transcription	NH-A	brain
14	chr1:120454400-120472400	Strong transcription	NHDF-Ad	bronchial
15	chr1:120454400-120472600	Strong transcription	Primary B cells from cord blood	blood
16	chr1:120454800-120472800	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr1:120454800-120473200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:120455200-120472000	Strong transcription	Placenta	Placenta
19	chr1:120455400-120472200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:120455400-120472800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr1:120455400-120472800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:120455400-120472800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:120455400-120472800	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:120455400-120475800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:120455600-120470000	Strong transcription	Esophagus	oesophagus
26	chr1:120455600-120472000	Strong transcription	Fetal Lung	lung
27	chr1:120455600-120472200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:120455600-120472600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:120455600-120472800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:120455600-120472800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr1:120455600-120473400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:120455600-120474000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:120455800-120472800	Strong transcription	NHLF	lung
34	chr1:120455800-120474200	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:120455800-120486800	Strong transcription	Liver	Liver
36	chr1:120456000-120469400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:120456000-120471200	Strong transcription	Fetal Kidney	kidney
38	chr1:120456000-120472600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:120456000-120472600	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr1:120456000-120472800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:120456000-120472800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:120456000-120472800	Strong transcription	Dnd41	blood
43	chr1:120456000-120473000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:120456200-120472400	Strong transcription	Rectal Smooth Muscle	rectum
45	chr1:120456200-120472600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr1:120456200-120472800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:120456200-120488000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:120456400-120472200	Strong transcription	Ovary	ovary
49	chr1:120456400-120472400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:120456400-120472600	Strong transcription	Primary T cells from cord blood	blood

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