Variant report

Variant	rs852262
Chromosome Location	chr7:5730216-5730217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5719461..5721503-chr7:5728501..5731331,2	K562	blood:
2	chr7:5726446..5729138-chr7:5729768..5731774,3	MCF-7	breast:
3	chr7:5723586..5725455-chr7:5729876..5731680,2	K562	blood:
4	chr7:5729527..5732207-chr7:5738007..5741204,4	K562	blood:

Variant related genes	Relation type
ENSG00000237738	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10225845	0.89[EUR][1000 genomes]
rs10271741	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10807950	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951961	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11763027	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1628786	1.00[AMR][1000 genomes]
rs1640231	0.83[ASN][1000 genomes]
rs1725186	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1725187	0.94[ASN][1000 genomes]
rs1990835	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008418	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2008425	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2112008	1.00[ASN][1000 genomes]
rs2161012	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161017	0.83[AMR][1000 genomes]
rs2345665	0.83[AMR][1000 genomes]
rs2345863	0.87[ASN][1000 genomes]
rs2345864	1.00[ASN][1000 genomes]
rs2693951	1.00[AMR][1000 genomes]
rs2881234	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28874635	0.87[ASN][1000 genomes]
rs2908430	0.94[ASN][1000 genomes]
rs3735288	0.94[ASN][1000 genomes]
rs3857756	0.88[ASN][1000 genomes]
rs3943984	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4720636	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720639	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4720643	0.80[ASN][1000 genomes]
rs4720645	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4724714	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724716	1.00[ASN][1000 genomes]
rs4724720	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4724721	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4724723	1.00[ASN][1000 genomes]
rs4724727	0.87[ASN][1000 genomes]
rs4724732	0.87[ASN][1000 genomes]
rs4724734	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62455878	0.87[ASN][1000 genomes]
rs6463508	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6463509	0.83[ASN][1000 genomes]
rs6463512	0.83[ASN][1000 genomes]
rs6463515	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs66467570	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6944453	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6945676	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6947405	1.00[ASN][1000 genomes]
rs6953412	0.83[AMR][1000 genomes]
rs6956990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957150	0.83[AMR][1000 genomes]
rs6969486	0.87[ASN][1000 genomes]
rs710939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs710940	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs710942	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7784394	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790499	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7792177	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7794571	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7809914	0.87[ASN][1000 genomes]
rs852260	0.83[AMR][1000 genomes]
rs852261	1.00[ASN][1000 genomes]
rs852264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852377	0.83[AMR][1000 genomes]
rs852378	0.94[ASN][1000 genomes]
rs852381	1.00[AMR][1000 genomes]
rs852383	1.00[AMR][1000 genomes]
rs852393	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852395	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852401	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852405	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852411	1.00[ASN][1000 genomes]
rs852412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852414	1.00[ASN][1000 genomes]
rs852416	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852418	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs852437	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852438	0.94[ASN][1000 genomes]
rs852439	0.94[ASN][1000 genomes]
rs852440	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852442	0.94[ASN][1000 genomes]
rs852443	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852449	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852451	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852455	0.94[ASN][1000 genomes]
rs852458	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852459	0.94[ASN][1000 genomes]
rs852460	0.94[ASN][1000 genomes]
rs852462	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852466	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852467	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852469	0.94[ASN][1000 genomes]
rs852471	0.94[ASN][1000 genomes]
rs852474	1.00[ASN][1000 genomes]
rs852475	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852477	0.94[ASN][1000 genomes]
rs852480	1.00[AMR][1000 genomes]
rs852487	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852490	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs852495	1.00[AMR][1000 genomes]
rs852509	0.85[AMR][1000 genomes]
rs852514	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs852515	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs852518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852521	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852536	1.00[AMR][1000 genomes]
rs852541	1.00[AMR][1000 genomes]
rs852543	1.00[AMR][1000 genomes]
rs852544	1.00[AMR][1000 genomes]
rs941016	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
7	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
8	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
10	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
13	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
14	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
15	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1028652	chr7:5706207-5769489	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
17	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5702000-5730600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:5718400-5731200	Weak transcription	HUVEC	blood vessel
3	chr7:5718400-5735600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:5720200-5741400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:5720600-5730400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:5721800-5730400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:5723000-5740800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:5723400-5740600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:5723400-5766400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:5723600-5730800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:5723600-5740600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:5724400-5732000	Weak transcription	Hela-S3	cervix
13	chr7:5725400-5730400	Weak transcription	Fetal Brain Female	brain
14	chr7:5725400-5730600	Weak transcription	Brain Germinal Matrix	brain
15	chr7:5725400-5730800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:5725400-5733000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:5725600-5730400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:5725600-5730400	Weak transcription	Fetal Brain Male	brain
19	chr7:5726000-5737000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:5726200-5730400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:5726200-5731000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr7:5726400-5730800	Weak transcription	Thymus	Thymus
23	chr7:5726600-5730400	Weak transcription	Brain Angular Gyrus	brain
24	chr7:5726600-5730600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:5726600-5730600	Weak transcription	NHEK	skin
26	chr7:5726600-5730800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:5726600-5733000	Weak transcription	K562	blood
28	chr7:5727000-5731000	Genic enhancers	Fetal Stomach	stomach
29	chr7:5727200-5730400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr7:5727200-5730400	Enhancers	NHLF	lung
31	chr7:5727200-5730600	Enhancers	Adipose Nuclei	Adipose
32	chr7:5727400-5730400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr7:5727400-5732200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:5727600-5730400	Weak transcription	Psoas Muscle	Psoas
35	chr7:5727600-5730400	Enhancers	HSMMtube	muscle
36	chr7:5727600-5732200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr7:5727800-5733000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:5728000-5730600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:5728000-5731800	Enhancers	Brain Hippocampus Middle	brain
40	chr7:5728000-5732800	Enhancers	Primary B cells from peripheral blood	blood
41	chr7:5728200-5730400	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:5728200-5730600	Weak transcription	Dnd41	blood
43	chr7:5728200-5731600	Enhancers	HMEC	breast
44	chr7:5728400-5733400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr7:5728600-5730600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:5728600-5731000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:5728600-5731200	Enhancers	NH-A	brain
48	chr7:5728600-5731400	Enhancers	Colonic Mucosa	Colon
49	chr7:5728600-5732600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr7:5728600-5734400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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