Variant report

Variant	rs71627567
Chromosome Location	chr5:43000816-43000817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42998105..43003044-chr5:43016342..43020590,4	MCF-7	breast:
2	chr5:42999330..43002712-chr5:43065180..43068954,4	MCF-7	breast:
3	chr5:42989588..43001279-chr5:43004636..43014428,32	K562	blood:
4	chr5:42949709..42952302-chr5:42999079..43000906,2	MCF-7	breast:
5	chr5:42901504..42902066-chr5:43000326..43000940,2	MCF-7	breast:
6	chr5:42991772..42994897-chr5:42997978..43001031,3	MCF-7	breast:
7	chr5:43000319..43003072-chr5:43066498..43069260,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177738	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000271788	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1084520	1.00[ASN][1000 genomes]
rs11550288	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13156403	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13156729	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13158147	1.00[ASN][1000 genomes]
rs13167375	1.00[ASN][1000 genomes]
rs13167991	1.00[ASN][1000 genomes]
rs13170322	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13170959	1.00[ASN][1000 genomes]
rs13171192	1.00[ASN][1000 genomes]
rs13174226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175754	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13176080	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180496	1.00[ASN][1000 genomes]
rs13186091	1.00[ASN][1000 genomes]
rs2085100	1.00[ASN][1000 genomes]
rs34157680	1.00[ASN][1000 genomes]
rs34215864	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34345245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34517361	1.00[ASN][1000 genomes]
rs34735159	1.00[ASN][1000 genomes]
rs34922908	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34967469	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35030460	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35197809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35322710	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35334781	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35484387	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35594379	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35756781	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36048737	1.00[ASN][1000 genomes]
rs36122053	1.00[ASN][1000 genomes]
rs505573	1.00[ASN][1000 genomes]
rs614386	1.00[ASN][1000 genomes]
rs632730	1.00[ASN][1000 genomes]
rs71627568	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
11	nsv881436	chr5:42967215-43008917	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
12	nsv880447	chr5:42967215-43030798	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
13	nsv881640	chr5:42978644-43028221	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
14	nsv880415	chr5:42978644-43030798	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42997200-43007200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:42998600-43006400	Weak transcription	Dnd41	blood
3	chr5:42999800-43001200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr5:43000000-43001000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr5:43000000-43001000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:43000000-43001000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr5:43000000-43001000	Flanking Active TSS	HUVEC	blood vessel
8	chr5:43000000-43001200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:43000000-43001200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:43000000-43001400	Flanking Active TSS	NHEK	skin
11	chr5:43000200-43001000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:43000200-43001000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:43000200-43001000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:43000200-43001000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:43000200-43001000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr5:43000200-43001000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:43000200-43001000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr5:43000200-43001000	Bivalent/Poised TSS	Colonic Mucosa	Colon
19	chr5:43000200-43001000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr5:43000200-43001000	ZNF genes & repeats	Right Atrium	heart
21	chr5:43000200-43001000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
22	chr5:43000200-43001000	Active TSS	A549	lung
23	chr5:43000200-43001000	Flanking Active TSS	HMEC	breast
24	chr5:43000200-43001000	Flanking Active TSS	NH-A	brain
25	chr5:43000200-43001200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:43000200-43001200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:43000200-43001400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr5:43000200-43001400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr5:43000400-43001000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:43000400-43001000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:43000400-43001000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr5:43000400-43001000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:43000400-43001000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:43000400-43001000	Active TSS	HSMM	muscle
35	chr5:43000400-43001000	Active TSS	NHDF-Ad	bronchial
36	chr5:43000400-43001200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr5:43000400-43006400	Weak transcription	K562	blood
38	chr5:43000600-43001000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:43000600-43001000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr5:43000600-43001000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:43000600-43001000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:43000600-43001000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:43000600-43001000	Bivalent Enhancer	Fetal Thymus	thymus
44	chr5:43000600-43001000	Active TSS	HepG2	liver
45	chr5:43000600-43001000	Active TSS	NHLF	lung
46	chr5:43000600-43001400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:43000600-43001400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:43000600-43001400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr5:43000800-43001000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr5:43000800-43001000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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