Variant report

Variant	rs2481646
Chromosome Location	chr1:176052597-176052598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr1:176052398-176052711	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RFWD2	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10798445	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10913118	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11810706	0.86[EUR][1000 genomes]
rs12135395	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12138008	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12144882	0.82[AFR][1000 genomes]
rs12723724	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12729524	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12741940	0.82[AMR][1000 genomes]
rs12756741	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16849486	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1974142	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2457418	0.83[AFR][1000 genomes]
rs2481628	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2481630	0.84[EUR][1000 genomes]
rs2481631	0.84[EUR][1000 genomes]
rs2481633	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2481655	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2481658	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2481662	0.83[EUR][1000 genomes]
rs2502823	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2502829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2502831	0.83[EUR][1000 genomes]
rs2502845	0.82[EUR][1000 genomes]
rs34973462	0.86[EUR][1000 genomes]
rs3934392	0.82[AMR][1000 genomes]
rs513354	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs520661	0.82[EUR][1000 genomes]
rs542742	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs617078	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs659279	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6660080	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6665385	0.82[EUR][1000 genomes]
rs668154	0.82[EUR][1000 genomes]
rs6682194	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6697860	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7530719	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7549160	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs791746	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs791751	0.81[EUR][1000 genomes]
rs791752	0.81[EUR][1000 genomes]
rs791753	0.81[EUR][1000 genomes]
rs9425447	0.81[EUR][1000 genomes]
rs944365	1.00[AFR][1000 genomes];0.83[EUR][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv872564	chr1:176027978-176102808	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
3	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
4	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:176012400-176062800	Weak transcription	Lung	lung
6	chr1:176012400-176065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:176028200-176079200	Weak transcription	HSMMtube	muscle
8	chr1:176031000-176054000	Weak transcription	NH-A	brain
9	chr1:176035000-176069800	Weak transcription	NHEK	skin
10	chr1:176035200-176067600	Weak transcription	Colonic Mucosa	Colon
11	chr1:176035400-176066400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:176035400-176067200	Weak transcription	HUVEC	blood vessel
13	chr1:176036000-176053800	Weak transcription	Placenta	Placenta
14	chr1:176037200-176064600	Weak transcription	Gastric	stomach
15	chr1:176037200-176067200	Weak transcription	Small Intestine	intestine
16	chr1:176037200-176067400	Weak transcription	Osteobl	bone
17	chr1:176038600-176068800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:176038800-176059400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:176039200-176068800	Weak transcription	HMEC	breast
20	chr1:176039400-176058800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:176040600-176065400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:176042200-176056600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:176042800-176067200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:176043000-176065400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:176045200-176064600	Weak transcription	Fetal Stomach	stomach
26	chr1:176045800-176066000	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:176046400-176055000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:176046400-176055400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr1:176046600-176057000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:176046600-176082200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:176046800-176055200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:176048000-176052800	Weak transcription	Fetal Heart	heart
33	chr1:176048400-176064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:176048400-176067600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:176048600-176054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:176048600-176063000	Weak transcription	Fetal Lung	lung
37	chr1:176048600-176064800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:176048600-176065600	Weak transcription	A549	lung
39	chr1:176048600-176066400	Weak transcription	Fetal Kidney	kidney
40	chr1:176048800-176054200	Weak transcription	Adipose Nuclei	Adipose
41	chr1:176048800-176057200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:176048800-176062800	Weak transcription	Fetal Thymus	thymus
43	chr1:176048800-176064400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:176048800-176064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:176048800-176065200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:176048800-176065200	Weak transcription	Brain Germinal Matrix	brain
47	chr1:176048800-176065400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:176048800-176066400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:176048800-176107000	Weak transcription	HepG2	liver
50	chr1:176049200-176054000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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