Variant report

Variant	rs73721029
Chromosome Location	chr7:127542263-127542264
allele	A/G
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:6)
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	ATF2	chr7:127541397-127542428	GM12878	blood:	n/a	n/a
2	FOXA1	chr7:127542169-127542547	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:127542208-127542526	K562	blood:	n/a	n/a
4	BCLAF1	chr7:127541807-127542365	GM12878	blood:	n/a	n/a
5	FOXA1	chr7:127542130-127542417	HepG2	liver:	n/a	n/a
6	RUNX3	chr7:127541372-127542377	GM12878	blood:	n/a	n/a
7	FOXA1	chr7:127542132-127542491	HepG2	liver:	n/a	n/a
8	FOXA1	chr7:127542145-127542584	HepG2	liver:	n/a	n/a
9	FOXA1	chr7:127542206-127542483	T-47D	breast:	n/a	n/a
10	RUNX3	chr7:127541434-127542362	GM12878	blood:	n/a	n/a
11	EBF1	chr7:127541464-127542281	GM12878	blood:	n/a	n/a
12	FOXA2	chr7:127542133-127542461	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127539859..127542368-chr7:127543054..127544559,2	K562	blood:
2	chr7:127541840..127544153-chr7:127545311..127547804,2	K562	blood:
3	chr7:127530901..127533766-chr7:127540275..127542321,2	K562	blood:
4	chr7:127539496..127544017-chr7:127546415..127549727,4	MCF-7	breast:
5	chr7:127540563..127543536-chr7:127545716..127548575,3	K562	blood:
6	chr7:127540989..127542676-chr7:127542945..127545682,2	MCF-7	breast:

No data

Variant related genes	Relation type
SND1	TF binding region
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs55820323	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56221924	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56258700	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347144	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56922858	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57918669	0.81[AFR][1000 genomes]
rs58102896	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58659499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60126795	0.82[AFR][1000 genomes]
rs60805384	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61165973	0.86[AFR][1000 genomes]
rs6951386	0.81[AFR][1000 genomes]
rs6951924	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956777	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6966554	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6977011	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721003	0.86[AFR][1000 genomes]
rs73721004	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721005	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721006	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721007	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721008	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721009	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721011	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721012	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721015	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721017	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721018	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721019	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721020	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721021	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721023	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721024	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721025	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721026	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721249	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721251	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721255	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721260	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721262	0.81[AFR][1000 genomes]
rs73721265	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721267	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721268	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721270	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721272	1.00[AMR][1000 genomes]
rs73721274	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721290	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723043	0.81[AFR][1000 genomes]
rs73723044	0.81[AFR][1000 genomes]
rs73723056	0.81[AFR][1000 genomes]
rs73723057	0.81[AFR][1000 genomes]
rs73723058	0.81[AFR][1000 genomes]
rs73723059	0.81[AFR][1000 genomes]
rs73723060	0.81[AFR][1000 genomes]
rs73723061	0.86[AFR][1000 genomes]
rs73723062	0.86[AFR][1000 genomes]
rs73723063	0.86[AFR][1000 genomes]
rs73723064	0.86[AFR][1000 genomes]
rs73723067	0.86[AFR][1000 genomes]
rs73723068	0.82[AFR][1000 genomes]
rs73723070	0.86[AFR][1000 genomes]
rs73723071	0.86[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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127526200-127544600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
4	chr7:127529200-127544600	Weak transcription	Thymus	Thymus
5	chr7:127529200-127545600	Weak transcription	Fetal Stomach	stomach
6	chr7:127529200-127546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:127529200-127548400	Weak transcription	Right Ventricle	heart
8	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:127529400-127551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
11	chr7:127532400-127547400	Weak transcription	A549	lung
12	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr7:127532600-127546000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:127532800-127544800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:127532800-127545600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:127534400-127544400	Weak transcription	Fetal Brain Male	brain
17	chr7:127535000-127542600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:127535000-127543200	Enhancers	Fetal Intestine Large	intestine
19	chr7:127535800-127542800	Enhancers	Fetal Intestine Small	intestine
20	chr7:127538000-127542600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:127538200-127542800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr7:127538200-127544200	Weak transcription	NHEK	skin
23	chr7:127538400-127544600	Weak transcription	NHDF-Ad	bronchial
24	chr7:127538400-127545400	Weak transcription	HSMM	muscle
25	chr7:127538400-127546000	Weak transcription	NHLF	lung
26	chr7:127538600-127544000	Weak transcription	HMEC	breast
27	chr7:127538600-127544400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:127538800-127544600	Weak transcription	HSMMtube	muscle
29	chr7:127538800-127546200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:127539000-127544000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:127539000-127544400	Weak transcription	HUVEC	blood vessel
32	chr7:127539000-127545600	Weak transcription	NH-A	brain
33	chr7:127539000-127556400	Weak transcription	Psoas Muscle	Psoas
34	chr7:127539200-127544600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:127539400-127542600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr7:127539600-127542600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:127539600-127542800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:127539600-127544600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr7:127539800-127542600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr7:127539800-127542600	Enhancers	Brain Anterior Caudate	brain
41	chr7:127539800-127542600	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:127539800-127542800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:127539800-127544800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:127540000-127542600	Enhancers	HepG2	liver
45	chr7:127540000-127542800	Enhancers	Fetal Lung	lung
46	chr7:127540000-127543000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:127540200-127542400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr7:127540200-127542600	Enhancers	Brain Cingulate Gyrus	brain
49	chr7:127540200-127542600	Enhancers	Brain Hippocampus Middle	brain
50	chr7:127540200-127542600	Enhancers	Colon Smooth Muscle	Colon

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