Variant report

Variant	rs4589068
Chromosome Location	chr1:180618379-180618380
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180601365..180604772-chr1:180617250..180620339,3	K562	blood:
2	chr1:180611817..180614490-chr1:180617185..180619103,2	K562	blood:
3	chr1:180609634..180611164-chr1:180617130..180619751,2	K562	blood:
4	chr1:180617456..180619128-chr1:180621082..180622603,2	K562	blood:
5	chr1:180616735..180618817-chr1:180623698..180626085,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2944262	0.90[ASN][1000 genomes]
rs3002115	0.84[ASN][1000 genomes]
rs3002116	0.84[ASN][1000 genomes]
rs3845406	0.90[EUR][1000 genomes]
rs4083591	0.92[EUR][1000 genomes]
rs4652524	0.81[AMR][1000 genomes]
rs7548318	0.90[ASN][1000 genomes]
rs7550031	0.90[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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180618800	Weak transcription	Pancreas	Pancrea
2	chr1:180602000-180645200	Weak transcription	Gastric	stomach
3	chr1:180603200-180622400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:180603400-180619400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:180603600-180626400	Weak transcription	Fetal Lung	lung
6	chr1:180604000-180623200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:180605600-180625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:180605800-180622000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:180605800-180625000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:180609800-180625800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:180612800-180626400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:180613000-180623000	Weak transcription	Brain Anterior Caudate	brain
13	chr1:180613200-180632600	Weak transcription	Aorta	Aorta
14	chr1:180613400-180621800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:180613400-180626400	Weak transcription	Adipose Nuclei	Adipose
16	chr1:180613400-180626600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:180615600-180618800	Weak transcription	Fetal Heart	heart
18	chr1:180615600-180623800	Weak transcription	Primary B cells from cord blood	blood
19	chr1:180616200-180618800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:180616200-180624800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:180616400-180619400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:180616400-180627200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:180616600-180622800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:180616600-180624400	Weak transcription	K562	blood
25	chr1:180616600-180626000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:180616800-180622000	Weak transcription	Left Ventricle	heart
27	chr1:180617800-180618800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:180617800-180618800	Weak transcription	GM12878-XiMat	blood

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