Variant report

Variant	rs4687601
Chromosome Location	chr3:51462030-51462031
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:51426841..51428936-chr3:51461966..51464881,2	MCF-7	breast:
2	chr3:51460834..51463432-chr3:51465142..51467609,2	K562	blood:
3	chr3:51425602..51427385-chr3:51461999..51464649,2	K562	blood:

Variant related genes	Relation type
ENSG00000179837	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10510757	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10510758	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12485610	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12487426	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12487468	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12489414	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12490471	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12490889	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12491048	0.98[ASN][1000 genomes]
rs12492624	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12493265	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12493323	0.81[CHB][hapmap]
rs12493618	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12493857	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12493978	0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12494462	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12494979	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13089799	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13090348	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1370124	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17051783	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051811	0.89[ASN][1000 genomes]
rs17661242	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17712228	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1842394	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2033703	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2082992	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2082993	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2101056	0.84[CHB][hapmap]
rs2170177	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs2217938	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241785	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304512	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306430	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2306431	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2356261	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356298	0.94[ASN][1000 genomes]
rs35536327	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3749317	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792408	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804766	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828395	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4468966	0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687553	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4687563	0.91[ASN][1000 genomes]
rs4687605	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4687610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687656	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4687691	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4687731	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687777	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687794	0.91[ASN][1000 genomes]
rs4687803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4687804	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4687811	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4687812	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4687813	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4974096	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4974098	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55667499	0.92[ASN][1000 genomes]
rs55671465	0.85[ASN][1000 genomes]
rs56239081	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56729479	0.94[ASN][1000 genomes]
rs57027950	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57047724	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57603251	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57700326	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57831708	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58059174	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58189274	0.82[ASN][1000 genomes]
rs58201844	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58568178	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58836277	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59563413	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59838596	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59953568	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60606339	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61233013	0.91[ASN][1000 genomes]
rs61419317	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61689323	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72945708	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72945713	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72951443	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73834252	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73834253	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73834254	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73834258	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73837435	0.94[AFR][1000 genomes]
rs73837437	0.88[AFR][1000 genomes]
rs73837438	0.94[AFR][1000 genomes]
rs73837439	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73837442	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73837443	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751076	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7642698	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs880478	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9817077	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs9817872	0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs9819195	0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9820140	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9827186	0.89[ASN][1000 genomes]
rs9829057	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs9842600	0.91[ASN][1000 genomes]
rs9843583	0.90[ASN][1000 genomes]
rs9856134	0.94[CHB][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9861019	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv460536	chr3:51395571-51469107	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv590276	chr3:51395571-51469107	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv590277	chr3:51408051-51474418	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv3369762	chr3:51449727-51469314	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3444499	chr3:51449727-51469614	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr3:51431400-51471200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:51433400-51477400	Weak transcription	Fetal Heart	heart
3	chr3:51434000-51475600	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr3:51434200-51477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:51434600-51471000	Weak transcription	Stomach Mucosa	stomach
6	chr3:51435200-51478000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:51439800-51478000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:51440800-51478200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr3:51444800-51477800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:51445400-51478400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr3:51446200-51471000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:51451200-51476800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:51451400-51469600	Strong transcription	Fetal Stomach	stomach
14	chr3:51452400-51463200	Strong transcription	Fetal Intestine Small	intestine
15	chr3:51454000-51467400	Weak transcription	Small Intestine	intestine
16	chr3:51454800-51466000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr3:51458000-51474800	Weak transcription	K562	blood
18	chr3:51458200-51466000	Weak transcription	Fetal Kidney	kidney
19	chr3:51458200-51466000	Weak transcription	NHEK	skin
20	chr3:51458200-51466200	Weak transcription	Colonic Mucosa	Colon
21	chr3:51458200-51474400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:51458200-51474600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:51458200-51475200	Weak transcription	NHLF	lung
24	chr3:51458200-51475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:51458200-51477600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:51458200-51478400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:51458200-51489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:51458200-51515000	Weak transcription	Fetal Brain Male	brain
29	chr3:51458400-51462400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:51458400-51463400	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:51458400-51464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:51458400-51464400	Weak transcription	Lung	lung
33	chr3:51458400-51464400	Weak transcription	Osteobl	bone
34	chr3:51458400-51464600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:51458400-51465200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:51458400-51465200	Weak transcription	Esophagus	oesophagus
37	chr3:51458400-51465800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:51458400-51466000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:51458400-51466000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:51458400-51466200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr3:51458400-51466200	Weak transcription	Right Ventricle	heart
42	chr3:51458400-51466400	Weak transcription	Fetal Lung	lung
43	chr3:51458400-51466600	Weak transcription	NHDF-Ad	bronchial
44	chr3:51458400-51473000	Weak transcription	Pancreas	Pancrea
45	chr3:51458400-51474200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:51458400-51475400	Weak transcription	Gastric	stomach
47	chr3:51458400-51500200	Weak transcription	Psoas Muscle	Psoas
48	chr3:51458600-51464200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:51458600-51464400	Weak transcription	Brain Hippocampus Middle	brain
50	chr3:51458600-51465800	Weak transcription	HUVEC	blood vessel

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