Variant report

Variant	rs10042021
Chromosome Location	chr5:177561906-177561907
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:177561852-177562023	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:177561827-177561951	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:177561886-177562072	K562	blood:	n/a	n/a
4	FAM48A	chr5:177561854-177562054	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:177560352..177564718-chr5:177565737..177570754,8	K562	blood:
2	chr5:177554438..177556086-chr5:177561391..177563807,2	K562	blood:
3	chr3:161088076..161090041-chr5:177561161..177563994,2	MCF-7	breast:
4	chr5:176852652..176854366-chr5:177560373..177562454,2	K562	blood:
5	chr5:177561649..177563413-chr5:177634433..177636302,2	K562	blood:
6	chr5:177554586..177557949-chr5:177561501..177564806,6	K562	blood:

No data

Variant related genes	Relation type
RMND5B	TF binding region
ENSG00000196542	Chromatin interaction
ENSG00000198055	Chromatin interaction
ENSG00000145916	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10035478	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10040895	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11952173	0.83[ASN][1000 genomes]
rs13183880	0.83[ASN][1000 genomes]
rs13184023	0.82[ASN][1000 genomes]
rs13436876	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34594900	0.83[ASN][1000 genomes]
rs35027513	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36087128	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3812074	0.82[EUR][1000 genomes]
rs3812075	0.82[EUR][1000 genomes]
rs3812079	0.82[EUR][1000 genomes]
rs4549545	0.83[ASN][1000 genomes]
rs4637566	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62392212	0.83[ASN][1000 genomes]
rs6601220	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6601222	0.82[ASN][1000 genomes]
rs6870391	0.81[ASN][1000 genomes]
rs6873523	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6878464	0.81[ASN][1000 genomes]
rs6878624	0.83[ASN][1000 genomes]
rs6893797	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7379278	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7380934	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7380947	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7447860	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7701678	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7710186	0.83[ASN][1000 genomes]
rs7732415	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
3	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
5	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
9	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv883192	chr5:177535370-177564346	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177558800-177562200	Weak transcription	Aorta	Aorta
2	chr5:177558800-177569600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:177558800-177576800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:177559000-177562400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:177559000-177562400	Weak transcription	Osteobl	bone
6	chr5:177559000-177562600	Weak transcription	Fetal Intestine Large	intestine
7	chr5:177559000-177562800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:177559000-177562800	Weak transcription	NH-A	brain
9	chr5:177559000-177563000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:177559000-177565000	Weak transcription	Brain Angular Gyrus	brain
11	chr5:177559000-177569000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:177559000-177569200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:177559000-177569200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:177559000-177569200	Weak transcription	Gastric	stomach
15	chr5:177559000-177569200	Weak transcription	HSMM	muscle
16	chr5:177559000-177569400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:177559000-177569600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:177559000-177569800	Weak transcription	HUVEC	blood vessel
19	chr5:177559000-177569800	Weak transcription	NHDF-Ad	bronchial
20	chr5:177559000-177570600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:177559000-177572800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:177559000-177572800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:177559000-177574000	Weak transcription	Small Intestine	intestine
24	chr5:177559000-177580000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:177559000-177580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:177559200-177562200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:177559200-177562200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:177559200-177562200	Weak transcription	Left Ventricle	heart
29	chr5:177559200-177562600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:177559200-177562800	Weak transcription	NHLF	lung
31	chr5:177559200-177563200	Weak transcription	NHEK	skin
32	chr5:177559200-177563400	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:177559200-177563800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:177559200-177563800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:177559200-177565000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:177559200-177565000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr5:177559200-177568800	Weak transcription	HSMMtube	muscle
38	chr5:177559200-177569600	Weak transcription	HMEC	breast
39	chr5:177559200-177569800	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:177559200-177570400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr5:177559200-177573000	Weak transcription	Psoas Muscle	Psoas
42	chr5:177559200-177573200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:177559200-177579800	Weak transcription	Right Atrium	heart
44	chr5:177559400-177570400	Weak transcription	Fetal Heart	heart
45	chr5:177559600-177562000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:177559600-177562400	Weak transcription	Stomach Mucosa	stomach
47	chr5:177559600-177562400	Weak transcription	HepG2	liver
48	chr5:177559600-177562600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:177559600-177562600	Weak transcription	GM12878-XiMat	blood
50	chr5:177559600-177567000	Weak transcription	Fetal Kidney	kidney

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