Variant report

Variant	rs58341788
Chromosome Location	chr7:127518148-127518149
allele	A/G
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: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10487496	1.00[AMR][1000 genomes]
rs13227138	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13235596	1.00[AMR][1000 genomes]
rs17660187	0.89[ASN][1000 genomes]
rs17662800	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17663644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17718364	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17730185	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730294	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17733783	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2272374	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34188289	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34209480	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34250605	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34844752	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34874680	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34980225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35120956	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35246122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35307919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35421080	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35521470	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35585856	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35602492	0.89[ASN][1000 genomes]
rs35640048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35872516	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs36043097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36046498	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3757762	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3757785	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3779525	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808062	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808090	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3808096	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3808111	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3808115	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58451280	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62481380	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481384	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62481453	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6948752	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs737242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746238	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7788592	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7808161	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][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:83 , 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	chr7:127505800-127518200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:127505800-127539600	Weak transcription	Small Intestine	intestine
24	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:127507000-127525000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:127507400-127524600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:127509400-127521800	Weak transcription	Left Ventricle	heart
28	chr7:127509400-127521800	Weak transcription	Right Atrium	heart
29	chr7:127512200-127525000	Weak transcription	Fetal Heart	heart
30	chr7:127512600-127528000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:127513200-127519800	Enhancers	NHDF-Ad	bronchial
32	chr7:127514000-127519400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:127514200-127521800	Weak transcription	Brain Angular Gyrus	brain
34	chr7:127514200-127521800	Weak transcription	Psoas Muscle	Psoas
35	chr7:127514200-127522000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:127514400-127518200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:127514400-127519200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:127514400-127524600	Weak transcription	HepG2	liver
39	chr7:127514600-127519200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr7:127514800-127531000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:127515200-127518800	Enhancers	HUVEC	blood vessel
42	chr7:127515400-127518600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr7:127515400-127518800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr7:127515400-127527800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:127515400-127540600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:127515600-127521600	Weak transcription	Ovary	ovary
47	chr7:127516000-127518800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:127516000-127520200	Enhancers	NH-A	brain
49	chr7:127516000-127522600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:127516000-127527000	Weak transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links