Variant report

Variant	rs467160
Chromosome Location	chr5:70884502-70884503
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:70884333-70884966	K562	blood:	n/a	n/a
2	POLR2A	chr5:70884285-70884829	GM12892	blood:	n/a	n/a
3	POLR2A	chr5:70884308-70885419	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:70884227-70884693	GM12891	blood:	n/a	n/a
5	WRNIP1	chr5:70884142-70884780	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:70884346-70884798	GM12892	blood:	n/a	n/a
7	POLR2A	chr5:70884391-70884666	GM12891	blood:	n/a	n/a
8	POLR2A	chr5:70884185-70885291	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr5:70884350-70884714	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:70884343-70884633	MCF-7	breast:	n/a	n/a
11	CEBPB	chr5:70884072-70884549	A549	lung:	n/a	n/a
12	POLR2A	chr5:70884278-70885418	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:70749978..70751854-chr5:70881938..70884932,2	K562	blood:
2	chr5:70881577..70886916-chr5:70891929..70900227,16	MCF-7	breast:
3	chr5:70870301..70875589-chr5:70883224..70887581,4	MCF-7	breast:
4	chr5:70882648..70886012-chr5:70920531..70924466,3	K562	blood:
5	chr5:70880665..70885311-chr5:70885640..70890340,6	K562	blood:
6	chr5:70880133..70886735-chr5:70895650..70901637,10	MCF-7	breast:
7	chr5:70881870..70884694-chr5:70885301..70891902,7	MCF-7	breast:
8	chr5:70883878..70887580-chr5:70891405..70894928,5	K562	blood:
9	chr5:70883251..70886427-chr5:70928765..70931034,4	MCF-7	breast:
10	chr5:70882556..70884981-chr5:176924076..176925754,2	MCF-7	breast:

No data

Variant related genes	Relation type
MCCC2	TF binding region
ENSG00000196923	Chromatin interaction
ENSG00000131844	Chromatin interaction
ENSG00000145734	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10942466	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10942683	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12110291	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12520417	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13158264	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13185319	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13185743	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1423358	0.84[EUR][1000 genomes]
rs149114	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs156754	0.81[AMR][1000 genomes]
rs156755	0.81[AMR][1000 genomes]
rs157044	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs157045	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs157046	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs157049	0.85[EUR][1000 genomes]
rs1693895	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1698063	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs172148	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs175872	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs182190	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1833856	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs185733	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs188059	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs190692	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2059193	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2646639	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs276590	0.81[AMR][1000 genomes]
rs276591	0.81[AMR][1000 genomes]
rs276592	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs276597	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs276598	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs276600	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs276601	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs277939	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs277940	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs277942	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs277944	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs277945	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs277954	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs277957	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs277958	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs277960	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs277961	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs277962	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs277963	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277964	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs277965	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277966	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs277967	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs277978	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs277979	0.92[CEU][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs277980	0.92[CEU][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs277981	0.85[EUR][1000 genomes]
rs277986	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs277996	0.92[CEU][hapmap];0.84[CHB][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs277999	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs278000	0.92[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs278001	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs279290	0.81[ASN][1000 genomes]
rs279291	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs279322	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs279337	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34029702	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35327154	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36036841	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3761965	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs378585	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs384732	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3890749	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs392791	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs404692	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs410776	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs418738	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs445771	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs451229	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs457908	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs458009	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs458150	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs458370	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs458534	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs459298	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs459787	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs460778	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs461215	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs462282	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs463871	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs464155	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs464182	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs464594	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs464962	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs465073	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs466930	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs467381	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs467413	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs467563	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs467620	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs467851	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs467901	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468028	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs468033	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs468128	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs468158	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs468446	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs468467	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs468564	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs468633	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs468658	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs468776	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs468832	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs469039	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs469142	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs469369	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs469379	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs469548	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs469617	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4704096	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs541035	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62361813	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6885523	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7443763	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7444320	0.81[ASN][1000 genomes]
rs7447545	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7732361	0.84[EUR][1000 genomes]
rs9791120	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs986217	0.84[EUR][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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' 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	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70882000-70884600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:70882200-70884800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:70882200-70884800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:70882200-70885600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:70882400-70884600	Active TSS	GM12878-XiMat	blood
6	chr5:70882600-70884600	Active TSS	Aorta	Aorta
7	chr5:70883400-70884800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr5:70883400-70885400	Flanking Active TSS	Dnd41	blood
9	chr5:70883600-70884600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr5:70883600-70884800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr5:70883600-70885000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:70883600-70885000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:70883800-70884600	Enhancers	Brain Germinal Matrix	brain
14	chr5:70883800-70884800	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:70883800-70884800	Enhancers	Fetal Brain Male	brain
16	chr5:70883800-70884800	Enhancers	Stomach Mucosa	stomach
17	chr5:70883800-70885000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr5:70883800-70885200	Enhancers	Fetal Heart	heart
19	chr5:70883800-70885600	Enhancers	Spleen	Spleen
20	chr5:70883800-70886000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:70883800-70889000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:70883800-70889800	Weak transcription	Lung	lung
23	chr5:70883800-70892000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:70883800-70892000	Weak transcription	NH-A	brain
25	chr5:70883800-70895400	Weak transcription	HSMMtube	muscle
26	chr5:70883800-70896400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:70883800-70906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:70883800-70916400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:70884000-70884600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:70884000-70884600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:70884000-70884600	Enhancers	Esophagus	oesophagus
32	chr5:70884000-70884600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:70884000-70884600	Flanking Active TSS	NHEK	skin
34	chr5:70884000-70884600	Enhancers	Osteobl	bone
35	chr5:70884000-70884800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:70884000-70884800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:70884000-70884800	Enhancers	Gastric	stomach
38	chr5:70884000-70885000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:70884000-70885000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:70884000-70885000	Enhancers	Colon Smooth Muscle	Colon
41	chr5:70884000-70885000	Weak transcription	Left Ventricle	heart
42	chr5:70884000-70885200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:70884000-70885200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr5:70884000-70885200	Enhancers	Brain Substantia Nigra	brain
45	chr5:70884000-70885400	Enhancers	Brain Hippocampus Middle	brain
46	chr5:70884000-70885600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:70884000-70885600	Weak transcription	Right Ventricle	heart
48	chr5:70884000-70885800	Enhancers	Primary B cells from cord blood	blood
49	chr5:70884000-70886200	Enhancers	Primary B cells from peripheral blood	blood
50	chr5:70884000-70886200	Enhancers	Pancreas	Pancrea

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