Variant report

Variant	rs4073423
Chromosome Location	chr5:96530117-96530118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96518600..96520567-chr5:96529112..96530644,2	MCF-7	breast:
2	chr5:96529786..96532537-chr5:96535359..96538183,3	K562	blood:
3	chr5:96521334..96524159-chr5:96530024..96533344,3	K562	blood:

Variant related genes	Relation type
ENSG00000251513	Chromatin interaction
ENSG00000248758	Chromatin interaction
ENSG00000058729	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10044182	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10070105	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1018058	0.83[EUR][1000 genomes]
rs10476561	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10476701	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10515256	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11746308	0.81[EUR][1000 genomes]
rs11746330	0.82[EUR][1000 genomes]
rs13162261	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13171520	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13178119	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1423501	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1423502	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1423503	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1423504	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1423507	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1528593	0.82[EUR][1000 genomes]
rs1528598	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1528599	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1581662	0.83[EUR][1000 genomes]
rs17630601	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17630655	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1845649	0.83[EUR][1000 genomes]
rs1845652	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1862593	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1874292	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1919246	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2081143	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2088150	0.83[EUR][1000 genomes]
rs2222767	0.82[EUR][1000 genomes]
rs2463784	0.81[EUR][1000 genomes]
rs2548419	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2548421	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2548426	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2548427	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2643487	0.83[EUR][1000 genomes]
rs2643490	0.83[EUR][1000 genomes]
rs2643491	0.83[EUR][1000 genomes]
rs2643492	0.83[EUR][1000 genomes]
rs2643493	0.82[EUR][1000 genomes]
rs2643495	0.82[EUR][1000 genomes]
rs2643497	0.82[EUR][1000 genomes]
rs2643498	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2643500	0.83[EUR][1000 genomes]
rs2643531	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2643532	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2643567	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2697569	0.83[EUR][1000 genomes]
rs2697570	0.83[EUR][1000 genomes]
rs2697575	0.82[EUR][1000 genomes]
rs2697576	0.82[EUR][1000 genomes]
rs2697577	0.82[EUR][1000 genomes]
rs2697578	0.82[EUR][1000 genomes]
rs2697579	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2697580	0.82[EUR][1000 genomes]
rs2697581	0.82[EUR][1000 genomes]
rs2697582	0.82[EUR][1000 genomes]
rs2697599	0.83[EUR][1000 genomes]
rs2697600	0.83[EUR][1000 genomes]
rs2697601	0.83[EUR][1000 genomes]
rs2697602	0.82[EUR][1000 genomes]
rs2697603	0.82[EUR][1000 genomes]
rs2697604	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2697605	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2697606	0.82[EUR][1000 genomes]
rs2697611	0.83[EUR][1000 genomes]
rs2697644	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28496199	0.82[AFR][1000 genomes]
rs28808625	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs3108531	0.83[EUR][1000 genomes]
rs3108532	0.83[EUR][1000 genomes]
rs34089335	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34122360	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35498938	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36154380	0.82[EUR][1000 genomes]
rs4032064	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869151	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4869154	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4869155	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4869324	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56267018	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67340817	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6861811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs721801	0.83[EUR][1000 genomes]
rs72777631	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72777640	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72777653	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7449164	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7729001	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9314195	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
5	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv882391	chr5:96496189-96533469	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	15 gene(s)	inside rSNPs	diseases
7	nsv882392	chr5:96496189-96546238	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv882393	chr5:96496189-96567950	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96520000-96531600	Weak transcription	HSMM	muscle
2	chr5:96520000-96534800	Weak transcription	Left Ventricle	heart
3	chr5:96528200-96531800	Flanking Active TSS	Dnd41	blood
4	chr5:96528800-96530200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:96528800-96530200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:96528800-96530800	Enhancers	GM12878-XiMat	blood
7	chr5:96529400-96530400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:96529400-96530600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:96529400-96530600	Genic enhancers	Primary B cells from cord blood	blood
10	chr5:96529400-96530600	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:96529400-96531400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:96529400-96533000	Weak transcription	Adipose Nuclei	Adipose
13	chr5:96529600-96530600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:96529800-96530400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:96529800-96530600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr5:96529800-96530600	Enhancers	Primary T cells from cord blood	blood
17	chr5:96529800-96530600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:96530000-96530200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr5:96530000-96530400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr5:96530000-96530400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:96530000-96530400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr5:96530000-96530400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:96530000-96530400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:96530000-96530400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr5:96530000-96530600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:96530000-96530600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr5:96530000-96530600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:96530000-96530600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr5:96530000-96530600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr5:96530000-96530600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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