Variant report

Variant	rs7712026
Chromosome Location	chr5:114856307-114856308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114855091..114857814-chr5:114877720..114879811,2	K562	blood:
2	chr5:114854993..114858753-chr5:114879088..114880982,3	MCF-7	breast:
3	chr5:114845762..114847363-chr5:114855311..114858213,2	K562	blood:
4	chr5:114841716..114844376-chr5:114856234..114858022,2	MCF-7	breast:
5	chr5:114855076..114857230-chr5:114867072..114869441,2	K562	blood:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11740361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1427860	1.00[EUR][1000 genomes]
rs17137925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17137978	1.00[EUR][1000 genomes]
rs17393505	0.96[EUR][1000 genomes]
rs17393664	0.95[EUR][1000 genomes]
rs17395548	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17395582	1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17472256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17472710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17473484	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17473708	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17473792	1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17474216	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2194114	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3776801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73780315	0.95[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:77 , 50 per page) page: 1 2

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	chr5:114844200-114858000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:114844200-114858800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:114844200-114859800	Weak transcription	Osteobl	bone
7	chr5:114845400-114858600	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:114845600-114862400	Weak transcription	Fetal Heart	heart
9	chr5:114846400-114860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:114846600-114858200	Weak transcription	A549	lung
11	chr5:114846600-114860000	Weak transcription	Ovary	ovary
12	chr5:114846800-114858600	Weak transcription	Brain Anterior Caudate	brain
13	chr5:114846800-114860000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:114847200-114858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:114847600-114858600	Weak transcription	Primary T cells from cord blood	blood
16	chr5:114848000-114858200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:114848000-114860400	Weak transcription	Esophagus	oesophagus
18	chr5:114848400-114858600	Weak transcription	Brain Germinal Matrix	brain
19	chr5:114848400-114860200	Weak transcription	Aorta	Aorta
20	chr5:114848600-114857200	Weak transcription	GM12878-XiMat	blood
21	chr5:114848600-114860200	Weak transcription	Thymus	Thymus
22	chr5:114849000-114858600	Weak transcription	Primary B cells from cord blood	blood
23	chr5:114849200-114858200	Weak transcription	K562	blood
24	chr5:114849200-114859200	Weak transcription	HepG2	liver
25	chr5:114849400-114856800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:114849400-114858600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:114850600-114858200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:114850800-114858000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:114851200-114858600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:114851600-114858400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:114851600-114858400	Weak transcription	NHLF	lung
32	chr5:114851800-114857000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:114851800-114858800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:114851800-114859000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:114852000-114858000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:114852400-114858200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr5:114852600-114858400	Weak transcription	NH-A	brain
38	chr5:114852800-114858200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr5:114853200-114858200	Strong transcription	NHDF-Ad	bronchial
40	chr5:114853200-114858400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:114853400-114858600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:114853400-114858800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:114853400-114859000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr5:114853400-114859600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:114853600-114858600	Weak transcription	Placenta	Placenta
46	chr5:114853600-114859000	Weak transcription	HMEC	breast
47	chr5:114853600-114860200	Weak transcription	Fetal Brain Male	brain
48	chr5:114853800-114858200	Weak transcription	HUVEC	blood vessel
49	chr5:114853800-114863000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:114854200-114857000	Weak transcription	Fetal Intestine Large	intestine

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