Variant report

Variant	rs2881234
Chromosome Location	chr7:5781892-5781893
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5779441..5783030-chr7:5818852..5821920,4	MCF-7	breast:
2	chr7:5601361..5603179-chr7:5781654..5783256,2	K562	blood:

Variant related genes	Relation type
ENSG00000075624	Chromatin interaction
ENSG00000011275	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10225845	0.83[AMR][1000 genomes]
rs10271741	1.00[AMR][1000 genomes]
rs10807950	0.88[ASN][1000 genomes]
rs10951961	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11763027	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1725186	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1725187	0.82[ASN][1000 genomes]
rs1990835	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2008418	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2008425	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2112008	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2112010	0.83[AMR][1000 genomes]
rs2161012	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2161016	0.83[AMR][1000 genomes]
rs2161017	1.00[AMR][1000 genomes]
rs2345665	1.00[AMR][1000 genomes]
rs2345864	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2693951	0.83[AMR][1000 genomes]
rs2908430	0.82[ASN][1000 genomes]
rs3735288	0.82[ASN][1000 genomes]
rs3943984	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4720636	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4720639	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4720643	0.84[AFR][1000 genomes]
rs4720645	1.00[AMR][1000 genomes]
rs4720648	0.83[AMR][1000 genomes]
rs4724714	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4724716	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4724720	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4724721	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4724723	0.88[ASN][1000 genomes]
rs4724734	1.00[AMR][1000 genomes]
rs6463508	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6463512	0.94[ASN][1000 genomes]
rs6463515	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66467570	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6944453	1.00[AMR][1000 genomes]
rs6945676	1.00[AMR][1000 genomes]
rs6947405	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6953412	1.00[AMR][1000 genomes]
rs6956990	0.88[ASN][1000 genomes]
rs6957150	1.00[AMR][1000 genomes]
rs6974576	0.83[AMR][1000 genomes]
rs710939	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs710940	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs710942	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7784394	0.88[ASN][1000 genomes]
rs7790499	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7792177	1.00[AMR][1000 genomes]
rs7794571	1.00[AMR][1000 genomes]
rs852261	0.88[ASN][1000 genomes]
rs852262	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs852264	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs852378	0.82[ASN][1000 genomes]
rs852381	0.83[AMR][1000 genomes]
rs852383	0.83[AMR][1000 genomes]
rs852393	0.88[ASN][1000 genomes]
rs852395	0.88[ASN][1000 genomes]
rs852398	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs852399	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs852401	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852403	0.88[ASN][1000 genomes]
rs852404	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs852405	0.88[ASN][1000 genomes]
rs852407	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852408	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs852411	0.88[ASN][1000 genomes]
rs852412	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852413	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs852414	0.88[ASN][1000 genomes]
rs852416	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852418	0.82[ASN][1000 genomes]
rs852419	0.83[AMR][1000 genomes]
rs852437	0.82[ASN][1000 genomes]
rs852438	0.82[ASN][1000 genomes]
rs852439	0.82[ASN][1000 genomes]
rs852440	0.82[ASN][1000 genomes]
rs852442	0.82[ASN][1000 genomes]
rs852443	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852449	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs852451	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852455	0.82[ASN][1000 genomes]
rs852458	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852459	0.82[ASN][1000 genomes]
rs852460	0.82[ASN][1000 genomes]
rs852462	0.82[ASN][1000 genomes]
rs852465	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852466	0.82[ASN][1000 genomes]
rs852467	0.82[ASN][1000 genomes]
rs852469	0.82[ASN][1000 genomes]
rs852471	0.82[ASN][1000 genomes]
rs852474	0.88[ASN][1000 genomes]
rs852475	0.82[ASN][1000 genomes]
rs852476	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852477	0.82[ASN][1000 genomes]
rs852480	0.83[AMR][1000 genomes]
rs852487	0.82[ASN][1000 genomes]
rs852490	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852514	0.82[ASN][1000 genomes]
rs852515	0.94[ASN][1000 genomes]
rs852518	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852521	0.82[ASN][1000 genomes]
rs852523	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852524	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs852525	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs941016	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv1028601	chr7:5748982-5919098	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
16	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
17	nsv1027679	chr7:5760731-6056619	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
18	nsv464293	chr7:5778796-5891221	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv464294	chr7:5778796-5891221	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv605987	chr7:5778796-5891221	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5753200-5794400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:5761600-5785600	Weak transcription	Fetal Brain Male	brain
3	chr7:5761800-5783000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:5762000-5820400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:5762800-5786000	Weak transcription	Fetal Kidney	kidney
6	chr7:5762800-5790200	Weak transcription	Small Intestine	intestine
7	chr7:5765200-5790400	Weak transcription	Psoas Muscle	Psoas
8	chr7:5768800-5798200	Weak transcription	Colonic Mucosa	Colon
9	chr7:5769000-5783800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:5769000-5785600	Weak transcription	Brain Angular Gyrus	brain
11	chr7:5769200-5785000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:5769200-5790200	Weak transcription	Pancreas	Pancrea
13	chr7:5769600-5783400	Weak transcription	Fetal Lung	lung
14	chr7:5774200-5783800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:5774200-5800600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:5775400-5782600	Strong transcription	Fetal Intestine Small	intestine
17	chr7:5775800-5782800	Strong transcription	Fetal Stomach	stomach
18	chr7:5776600-5783200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:5776800-5782000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:5776800-5783400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr7:5776800-5786600	Strong transcription	Fetal Thymus	thymus
22	chr7:5777200-5782000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:5777200-5783400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr7:5777400-5783000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:5777800-5783000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:5778800-5782600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:5779000-5783400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:5779200-5783200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:5779200-5783400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr7:5779200-5783400	Weak transcription	Fetal Heart	heart
31	chr7:5779200-5783400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:5779200-5785800	Weak transcription	NH-A	brain
33	chr7:5779200-5788000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:5779400-5783200	Weak transcription	GM12878-XiMat	blood
35	chr7:5779400-5784600	Weak transcription	HUVEC	blood vessel
36	chr7:5779400-5789400	Weak transcription	HMEC	breast
37	chr7:5779600-5783000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:5779600-5783200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:5780400-5783200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:5780600-5783400	Weak transcription	Brain Substantia Nigra	brain
41	chr7:5780600-5783600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:5780800-5783600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:5781000-5782400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:5781000-5783400	Weak transcription	Fetal Brain Female	brain
45	chr7:5781000-5785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:5781000-5785600	Weak transcription	Aorta	Aorta
47	chr7:5781200-5782800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:5781200-5782800	Weak transcription	Brain Germinal Matrix	brain
49	chr7:5781200-5783000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:5781200-5783000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links