Variant report

Variant	rs12187973
Chromosome Location	chr5:114858437-114858438
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114856363..114859247-chr5:114859922..114862071,2	K562	blood:
2	chr5:114854993..114858753-chr5:114879088..114880982,3	MCF-7	breast:
3	chr5:114857751..114862120-chr5:114862571..114865082,5	K562	blood:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs171774	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs173965	0.83[ASN][1000 genomes]
rs173966	0.83[ASN][1000 genomes]
rs187682	0.84[EUR][1000 genomes]
rs2169771	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2546484	0.85[CEU][hapmap]
rs2546486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2546487	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2559990	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs256938	0.85[CEU][hapmap]
rs256939	0.84[ASN][1000 genomes]
rs256940	0.91[CHB][hapmap]
rs256943	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs256944	0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs256945	0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs256956	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs256959	0.96[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.87[JPT][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256964	0.85[CHB][hapmap]
rs256968	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs256969	0.80[ASN][1000 genomes]
rs256970	0.83[ASN][1000 genomes]
rs256971	0.83[ASN][1000 genomes]
rs256972	0.83[ASN][1000 genomes]
rs256976	0.96[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs256978	0.86[ASN][1000 genomes]
rs256980	0.84[EUR][1000 genomes]
rs256984	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs256986	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs256987	0.85[ASN][1000 genomes]
rs256988	0.85[ASN][1000 genomes]
rs256991	0.85[ASN][1000 genomes]
rs256993	0.85[ASN][1000 genomes]
rs256996	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs256997	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs256998	0.83[ASN][1000 genomes]
rs372702	0.85[CEU][hapmap]
rs415577	0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6893854	0.82[CEU][hapmap]
rs6894123	0.82[CEU][hapmap]
rs813761	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114843200-114858800	Weak transcription	Left Ventricle	heart
2	chr5:114843600-114860000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:114844000-114859000	Weak transcription	HSMMtube	muscle
4	chr5:114844200-114858800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:114844200-114859800	Weak transcription	Osteobl	bone
6	chr5:114845400-114858600	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:114845600-114862400	Weak transcription	Fetal Heart	heart
8	chr5:114846400-114860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:114846600-114860000	Weak transcription	Ovary	ovary
10	chr5:114846800-114858600	Weak transcription	Brain Anterior Caudate	brain
11	chr5:114846800-114860000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:114847200-114858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:114847600-114858600	Weak transcription	Primary T cells from cord blood	blood
14	chr5:114848000-114860400	Weak transcription	Esophagus	oesophagus
15	chr5:114848400-114858600	Weak transcription	Brain Germinal Matrix	brain
16	chr5:114848400-114860200	Weak transcription	Aorta	Aorta
17	chr5:114848600-114860200	Weak transcription	Thymus	Thymus
18	chr5:114849000-114858600	Weak transcription	Primary B cells from cord blood	blood
19	chr5:114849200-114859200	Weak transcription	HepG2	liver
20	chr5:114849400-114858600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:114851200-114858600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:114851800-114858800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:114851800-114859000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:114853400-114858600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:114853400-114858800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:114853400-114859000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:114853400-114859600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:114853600-114858600	Weak transcription	Placenta	Placenta
29	chr5:114853600-114859000	Weak transcription	HMEC	breast
30	chr5:114853600-114860200	Weak transcription	Fetal Brain Male	brain
31	chr5:114853800-114863000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:114854200-114859800	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr5:114854600-114870200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr5:114854800-114858800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:114855000-114859000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:114855200-114858600	Weak transcription	Adipose Nuclei	Adipose
37	chr5:114855200-114858800	Weak transcription	Fetal Kidney	kidney
38	chr5:114855400-114860200	Weak transcription	NHEK	skin
39	chr5:114855400-114863600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr5:114855600-114858600	Weak transcription	Fetal Lung	lung
41	chr5:114855600-114859000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:114856000-114860000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:114856200-114859000	Weak transcription	Brain Substantia Nigra	brain
44	chr5:114856200-114859800	Weak transcription	Fetal Brain Female	brain
45	chr5:114856600-114858800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:114856600-114858800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:114856600-114860000	Weak transcription	Right Ventricle	heart
48	chr5:114856800-114859000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:114856800-114859600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:114856800-114859800	Weak transcription	Brain Inferior Temporal Lobe	brain

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