Variant report

Variant	rs10053572
Chromosome Location	chr5:114877544-114877545
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114503892..114506743-chr5:114877227..114879366,2	K562	blood:

Variant related genes	Relation type
ENSG00000152503	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10038493	0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10041776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10043094	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs10073505	0.81[ASN][1000 genomes]
rs10079000	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs1015812	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13177180	0.81[ASN][1000 genomes]
rs13184723	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13356084	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13357862	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2032842	0.83[CHB][hapmap]
rs2546484	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs256938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs256977	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs256989	0.85[ASN][1000 genomes]
rs256995	0.84[ASN][1000 genomes]
rs372702	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6860557	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6878790	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6892071	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6893854	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6894123	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs746566	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs766454	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9326964	0.92[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv965571	chr5:114874943-114878934	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114858600-114878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:114861000-114878600	Weak transcription	Pancreas	Pancrea
3	chr5:114861000-114878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:114861000-114878800	Weak transcription	Spleen	Spleen
5	chr5:114861200-114878600	Weak transcription	Esophagus	oesophagus
6	chr5:114863600-114878600	Weak transcription	Gastric	stomach
7	chr5:114868400-114878000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:114871200-114879200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:114872600-114879400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
10	chr5:114874000-114878000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:114874000-114878200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr5:114874000-114879200	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr5:114874200-114881200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:114874400-114878000	Weak transcription	Stomach Mucosa	stomach
15	chr5:114874400-114878800	Active TSS	Stomach Smooth Muscle	stomach
16	chr5:114874600-114878800	Active TSS	Right Ventricle	heart
17	chr5:114875400-114877800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:114875400-114878600	Active TSS	Brain Germinal Matrix	brain
19	chr5:114875600-114877600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:114875600-114878800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:114875600-114878800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
22	chr5:114875600-114878800	Active TSS	Psoas Muscle	Psoas
23	chr5:114875600-114879000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:114875600-114879000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:114875600-114880000	Active TSS	Right Atrium	heart
26	chr5:114875600-114881000	Active TSS	Fetal Brain Female	brain
27	chr5:114875600-114881200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:114875800-114878600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:114875800-114879000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
30	chr5:114875800-114879000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
31	chr5:114875800-114879200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
32	chr5:114876000-114878000	Active TSS	Fetal Muscle Leg	muscle
33	chr5:114876000-114878000	Active TSS	NH-A	brain
34	chr5:114876000-114878400	Active TSS	NHLF	lung
35	chr5:114876000-114878600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr5:114876000-114878600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:114876000-114879000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
38	chr5:114876000-114879000	Active TSS	HepG2	liver
39	chr5:114876000-114879400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr5:114876200-114877600	Flanking Active TSS	HUVEC	blood vessel
41	chr5:114876200-114878000	Active TSS	H1 Cell Line	embryonic stem cell
42	chr5:114876200-114878000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:114876200-114878400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:114876200-114878400	Active TSS	Fetal Kidney	kidney
45	chr5:114876200-114878600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:114876200-114878600	Active TSS	Fetal Stomach	stomach
47	chr5:114876200-114878800	Active TSS	Fetal Brain Male	brain
48	chr5:114876200-114878800	Active TSS	Ovary	ovary
49	chr5:114876200-114879000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:114876200-114879200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood

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