Variant report

Variant	rs73721023
Chromosome Location	chr7:127518526-127518527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127511316..127514089-chr7:127518018..127520824,2	MCF-7	breast:
2	chr7:127514549..127522691-chr7:127524662..127530854,11	K562	blood:
3	chr7:127516327..127519323-chr7:127525102..127528935,4	K562	blood:
4	chr7:127439262..127442227-chr7:127516477..127518829,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs55820323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56221924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56258700	1.00[AMR][1000 genomes]
rs56347144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347574	0.84[AFR][1000 genomes]
rs56922858	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57693908	0.84[AFR][1000 genomes]
rs57918669	0.95[AFR][1000 genomes]
rs58102896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58368490	0.86[AFR][1000 genomes]
rs58659499	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59806488	0.84[AFR][1000 genomes]
rs60126795	0.95[AFR][1000 genomes]
rs60256957	0.84[AFR][1000 genomes]
rs60805384	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61165973	1.00[AFR][1000 genomes]
rs61699393	0.89[AFR][1000 genomes]
rs6951386	0.95[AFR][1000 genomes]
rs6951924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956334	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956777	1.00[AMR][1000 genomes]
rs6966554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6977011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73720869	0.84[AFR][1000 genomes]
rs73721003	1.00[AFR][1000 genomes]
rs73721004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721028	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721029	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721249	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721251	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721255	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721260	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721265	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721267	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721268	1.00[AMR][1000 genomes]
rs73721270	1.00[AMR][1000 genomes]
rs73721272	1.00[AMR][1000 genomes]
rs73721274	1.00[AMR][1000 genomes]
rs73721290	1.00[AMR][1000 genomes]
rs73723031	0.84[AFR][1000 genomes]
rs73723036	0.84[AFR][1000 genomes]
rs73723037	0.84[AFR][1000 genomes]
rs73723038	0.84[AFR][1000 genomes]
rs73723041	0.84[AFR][1000 genomes]
rs73723043	0.95[AFR][1000 genomes]
rs73723044	0.95[AFR][1000 genomes]
rs73723056	0.95[AFR][1000 genomes]
rs73723057	0.95[AFR][1000 genomes]
rs73723058	0.95[AFR][1000 genomes]
rs73723059	0.95[AFR][1000 genomes]
rs73723060	0.95[AFR][1000 genomes]
rs73723061	1.00[AFR][1000 genomes]
rs73723062	1.00[AFR][1000 genomes]
rs73723063	1.00[AFR][1000 genomes]
rs73723064	1.00[AFR][1000 genomes]
rs73723066	0.90[AFR][1000 genomes]
rs73723067	1.00[AFR][1000 genomes]
rs73723068	0.95[AFR][1000 genomes]
rs73723070	1.00[AFR][1000 genomes]
rs73723071	1.00[AFR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:127485600-127522000	Weak transcription	Placenta	Placenta
3	chr7:127491400-127527800	Weak transcription	Liver	Liver
4	chr7:127496600-127519400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:127498600-127525000	Weak transcription	Fetal Intestine Small	intestine
6	chr7:127498800-127519400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:127498800-127521800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:127498800-127524600	Weak transcription	Gastric	stomach
9	chr7:127498800-127525600	Weak transcription	Fetal Stomach	stomach
10	chr7:127500200-127521800	Weak transcription	Pancreas	Pancrea
11	chr7:127500200-127535400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:127500400-127527800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:127500400-127527800	Weak transcription	Dnd41	blood
14	chr7:127500400-127528000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:127500600-127527400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:127501000-127527800	Weak transcription	Fetal Thymus	thymus
17	chr7:127503000-127524400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:127504600-127522000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:127505400-127537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:127505600-127525200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:127505600-127528400	Weak transcription	Hela-S3	cervix
22	chr7:127505800-127539600	Weak transcription	Small Intestine	intestine
23	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:127507000-127525000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:127507400-127524600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:127509400-127521800	Weak transcription	Left Ventricle	heart
27	chr7:127509400-127521800	Weak transcription	Right Atrium	heart
28	chr7:127512200-127525000	Weak transcription	Fetal Heart	heart
29	chr7:127512600-127528000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:127513200-127519800	Enhancers	NHDF-Ad	bronchial
31	chr7:127514000-127519400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:127514200-127521800	Weak transcription	Brain Angular Gyrus	brain
33	chr7:127514200-127521800	Weak transcription	Psoas Muscle	Psoas
34	chr7:127514200-127522000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:127514400-127519200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:127514400-127524600	Weak transcription	HepG2	liver
37	chr7:127514600-127519200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr7:127514800-127531000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:127515200-127518800	Enhancers	HUVEC	blood vessel
40	chr7:127515400-127518600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr7:127515400-127518800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr7:127515400-127527800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:127515400-127540600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:127515600-127521600	Weak transcription	Ovary	ovary
45	chr7:127516000-127518800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:127516000-127520200	Enhancers	NH-A	brain
47	chr7:127516000-127522600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:127516000-127527000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:127516000-127527800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:127516000-127528000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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