Variant report

Variant	rs72875696
Chromosome Location	chr2:46785060-46785061
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	chr2:46781985..46785151-chr2:46792596..46794911,4	MCF-7	breast:
2	chr2:46780322..46782811-chr2:46783470..46785498,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1057899	0.87[ASN][1000 genomes]
rs1060656	0.87[ASN][1000 genomes]
rs11306	0.90[ASN][1000 genomes]
rs1137748	0.87[ASN][1000 genomes]
rs11901678	0.87[ASN][1000 genomes]
rs11903907	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404342	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406609	0.87[ASN][1000 genomes]
rs13410076	0.87[ASN][1000 genomes]
rs1376406	0.87[ASN][1000 genomes]
rs1456018	0.87[ASN][1000 genomes]
rs17035272	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035361	0.87[ASN][1000 genomes]
rs1809087	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276554	0.90[ASN][1000 genomes]
rs3213985	0.87[ASN][1000 genomes]
rs3768723	0.87[ASN][1000 genomes]
rs4300884	0.87[ASN][1000 genomes]
rs4377377	0.87[ASN][1000 genomes]
rs57134465	0.87[ASN][1000 genomes]
rs57955462	0.87[ASN][1000 genomes]
rs58101879	0.87[ASN][1000 genomes]
rs58342271	0.81[ASN][1000 genomes]
rs59183773	0.87[ASN][1000 genomes]
rs59823825	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60199254	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60211996	0.87[ASN][1000 genomes]
rs60738814	0.81[ASN][1000 genomes]
rs61252474	0.87[ASN][1000 genomes]
rs6544904	0.87[ASN][1000 genomes]
rs6713104	0.87[ASN][1000 genomes]
rs6719813	0.87[ASN][1000 genomes]
rs6727471	0.87[ASN][1000 genomes]
rs6733143	0.87[ASN][1000 genomes]
rs6749372	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756134	0.87[ASN][1000 genomes]
rs68104662	0.86[ASN][1000 genomes]
rs7563577	0.87[ASN][1000 genomes]
rs7589908	0.87[ASN][1000 genomes]
rs7591561	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592446	0.81[ASN][1000 genomes]
rs962467	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808496	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv9713	chr2:46775356-46790566	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46771200-46812800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:46771400-46789600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:46771400-46796000	Weak transcription	Fetal Kidney	kidney
4	chr2:46771800-46795600	Weak transcription	Fetal Brain Male	brain
5	chr2:46772200-46804000	Weak transcription	NH-A	brain
6	chr2:46773200-46806000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:46774800-46789200	Weak transcription	Pancreas	Pancrea
8	chr2:46775200-46787200	Weak transcription	Gastric	stomach
9	chr2:46775200-46788600	Weak transcription	A549	lung
10	chr2:46775600-46815800	Weak transcription	Fetal Brain Female	brain
11	chr2:46776400-46789000	Weak transcription	Primary T cells from cord blood	blood
12	chr2:46776600-46785200	Weak transcription	Small Intestine	intestine
13	chr2:46776600-46786000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:46776600-46789000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:46776800-46794600	Weak transcription	Ovary	ovary
16	chr2:46777000-46788600	Weak transcription	Colonic Mucosa	Colon
17	chr2:46777000-46788800	Weak transcription	HSMMtube	muscle
18	chr2:46777000-46789200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:46777600-46785200	Weak transcription	Fetal Intestine Large	intestine
20	chr2:46778400-46788600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:46778600-46786000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:46779000-46790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:46779000-46790600	Weak transcription	K562	blood
24	chr2:46779800-46788400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:46779800-46794600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:46780000-46785200	Weak transcription	Aorta	Aorta
27	chr2:46780000-46785200	Weak transcription	Fetal Intestine Small	intestine
28	chr2:46780000-46785600	Weak transcription	Thymus	Thymus
29	chr2:46781800-46785400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:46782000-46786600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:46782200-46785200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:46782200-46798400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:46782400-46785200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:46782400-46786200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:46782400-46786600	Weak transcription	Lung	lung
36	chr2:46782400-46806600	Weak transcription	Brain Germinal Matrix	brain
37	chr2:46782800-46788800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:46782800-46803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:46783000-46785200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:46783000-46785200	Weak transcription	Fetal Stomach	stomach
41	chr2:46783000-46786000	Weak transcription	Psoas Muscle	Psoas
42	chr2:46783000-46786600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:46783000-46786800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:46783000-46788400	Weak transcription	Spleen	Spleen
45	chr2:46783000-46789200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:46783000-46792000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:46783000-46795600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:46783000-46796800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:46783000-46807200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:46783200-46786000	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links