Variant report

Variant	rs4671213
Chromosome Location	chr2:54631056-54631057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54630441..54633301-chr2:54634857..54637663,2	MCF-7	breast:
2	chr2:54629237..54631678-chr2:54647068..54649301,2	K562	blood:
3	chr2:54629042..54631678-chr2:54646319..54649301,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10198148	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10198625	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10203844	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10779939	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10865283	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11125534	0.83[ASN][1000 genomes]
rs11125538	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11674998	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12713257	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392262	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34748765	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3951717	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233947	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233948	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233949	0.83[ASN][1000 genomes]
rs4315567	0.94[ASN][1000 genomes]
rs4359699	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4417755	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4439997	0.88[ASN][1000 genomes]
rs4450644	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4588223	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671214	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671215	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671923	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671924	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671925	0.83[ASN][1000 genomes]
rs4671926	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4671928	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6545401	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6545403	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710292	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718253	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6734097	0.94[ASN][1000 genomes]
rs6748228	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6752877	0.94[ASN][1000 genomes]
rs6760027	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565489	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576075	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7592359	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592641	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595929	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7597837	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7601198	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7605902	0.83[ASN][1000 genomes]
rs7607093	0.94[ASN][1000 genomes]
rs8179723	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9677336	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9677338	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9677960	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9679192	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54615400-54643000	Weak transcription	Right Ventricle	heart
2	chr2:54618600-54647200	Weak transcription	Left Ventricle	heart
3	chr2:54623600-54643000	Weak transcription	Lung	lung
4	chr2:54628000-54631200	Enhancers	NHLF	lung
5	chr2:54629000-54631200	Enhancers	NHDF-Ad	bronchial
6	chr2:54629600-54631200	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:54629600-54631800	Enhancers	Brain Hippocampus Middle	brain
8	chr2:54630000-54634200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:54630000-54634800	Weak transcription	HSMMtube	muscle
10	chr2:54630000-54638800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:54630200-54631200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:54630200-54631200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:54630200-54637000	Weak transcription	Fetal Stomach	stomach
14	chr2:54630400-54631200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:54630600-54631400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:54630600-54631600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:54630600-54631800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:54630600-54633200	Weak transcription	Fetal Lung	lung
19	chr2:54630600-54634800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:54630600-54636200	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:54630600-54637000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:54630800-54631200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:54630800-54631200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr2:54630800-54631200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
25	chr2:54630800-54631600	Weak transcription	Brain Substantia Nigra	brain
26	chr2:54630800-54631600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:54630800-54634200	Weak transcription	Brain Anterior Caudate	brain
28	chr2:54630800-54634200	Weak transcription	Fetal Heart	heart
29	chr2:54630800-54635000	Weak transcription	Brain Angular Gyrus	brain
30	chr2:54631000-54631200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:54631000-54631400	Bivalent Enhancer	Primary B cells from cord blood	blood
32	chr2:54631000-54632000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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