Variant report

Variant	rs7788592
Chromosome Location	chr7:127572679-127572680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127568481..127572943-chr7:127573201..127576396,5	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10487496	0.89[AMR][1000 genomes]
rs13235596	0.89[AMR][1000 genomes]
rs13240628	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs17662800	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17663644	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17718364	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs17730185	0.89[AMR][1000 genomes]
rs17730294	0.89[AMR][1000 genomes]
rs17733783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2272374	0.85[AFR][1000 genomes]
rs34188289	0.85[AFR][1000 genomes]
rs34209480	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34250605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34393727	0.83[EUR][1000 genomes]
rs34844752	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34874680	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34980225	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35246122	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35307919	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35421080	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35521470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35585856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35602492	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs35640048	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35872516	0.85[AFR][1000 genomes]
rs36043097	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36046498	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs3757762	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3757785	0.85[AFR][1000 genomes]
rs3779525	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3808062	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3808090	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58341788	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62481380	0.85[AFR][1000 genomes]
rs62481384	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs62481393	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62481453	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6948752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs737242	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs746238	0.85[AFR][1000 genomes]
rs7808161	0.85[AFR][1000 genomes];0.89[AMR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127562200-127589800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:127567000-127574200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:127567600-127581400	Strong transcription	K562	blood
4	chr7:127567800-127573000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:127567800-127573400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:127567800-127577200	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:127568000-127576200	Strong transcription	NHEK	skin
8	chr7:127568200-127577200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:127568200-127583400	Weak transcription	Fetal Heart	heart
10	chr7:127568200-127594000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:127568400-127573200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:127568600-127577000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:127569000-127574400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:127569000-127574400	Strong transcription	Liver	Liver
15	chr7:127569000-127574800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr7:127569000-127576600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr7:127569200-127573200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:127569200-127573200	Strong transcription	Ovary	ovary
19	chr7:127569200-127573600	Strong transcription	HSMMtube	muscle
20	chr7:127569200-127574200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:127569200-127574400	Strong transcription	Primary T cells from cord blood	blood
22	chr7:127569200-127575000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:127569200-127575600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:127569400-127572800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:127569400-127572800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:127569400-127573400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:127569400-127574400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:127569400-127574400	Strong transcription	HUVEC	blood vessel
29	chr7:127569800-127615600	Weak transcription	Colonic Mucosa	Colon
30	chr7:127570000-127577200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:127570000-127577400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:127570000-127577400	Weak transcription	Brain Angular Gyrus	brain
33	chr7:127570000-127583800	Weak transcription	Psoas Muscle	Psoas
34	chr7:127570000-127585800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr7:127570000-127591400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:127570200-127577200	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:127570400-127573600	Weak transcription	Fetal Brain Male	brain
38	chr7:127570600-127573200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:127570600-127573800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:127570600-127573800	Weak transcription	Gastric	stomach
41	chr7:127570600-127575600	Weak transcription	Pancreas	Pancrea
42	chr7:127570600-127575600	Weak transcription	Spleen	Spleen
43	chr7:127570600-127576000	Weak transcription	Right Atrium	heart
44	chr7:127570600-127576000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:127570600-127584600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:127570600-127615600	Weak transcription	Small Intestine	intestine
47	chr7:127570600-127615800	Weak transcription	Esophagus	oesophagus
48	chr7:127570600-127616400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:127570800-127572800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:127570800-127577800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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