Variant report

Variant	rs1094462
Chromosome Location	chr1:155776497-155776498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155774997..155776767-chr1:155793865..155796563,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11803678	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374129	1.00[EUR][1000 genomes]
rs13376121	0.80[EUR][1000 genomes]
rs13376235	0.80[EUR][1000 genomes]
rs1624846	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16837037	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16837063	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs171167	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17370773	1.00[CEU][hapmap]
rs1749415	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs1749417	0.84[EUR][1000 genomes]
rs1749421	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765284	0.97[EUR][1000 genomes]
rs1962247	0.95[EUR][1000 genomes]
rs2363012	0.80[EUR][1000 genomes]
rs2477541	1.00[EUR][1000 genomes]
rs2686255	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28574887	1.00[EUR][1000 genomes]
rs2985708	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs348206	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35044707	1.00[EUR][1000 genomes]
rs41264969	0.95[EUR][1000 genomes]
rs4253908	0.95[EUR][1000 genomes]
rs4612618	1.00[EUR][1000 genomes]
rs4933	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs4971065	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs4971086	0.82[EUR][1000 genomes]
rs4971087	0.82[EUR][1000 genomes]
rs4971106	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs543854	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs548809	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs552778	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56758819	1.00[EUR][1000 genomes]
rs59706606	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59791187	1.00[EUR][1000 genomes]
rs598176	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs61258690	0.85[EUR][1000 genomes]
rs621181	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs682020	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs708612	0.95[EUR][1000 genomes]
rs73001021	1.00[EUR][1000 genomes]
rs7525057	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7530530	0.86[AFR][1000 genomes]
rs7530726	0.80[EUR][1000 genomes]
rs7535158	0.90[EUR][1000 genomes]
rs822016	1.00[EUR][1000 genomes]
rs822018	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822019	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822020	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs822022	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822026	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs822477	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs822482	0.80[EUR][1000 genomes]
rs822495	1.00[CEU][hapmap]
rs822497	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822499	0.80[EUR][1000 genomes]
rs822516	1.00[GIH][hapmap]
rs822523	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9426929	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9427223	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers 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 miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872469	chr1:155743310-155810293	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:155716600-155781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:155717400-155795800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:155720200-155798200	Strong transcription	Fetal Thymus	thymus
6	chr1:155720200-155803600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:155720400-155796800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:155732200-155789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:155746400-155791400	Weak transcription	Stomach Mucosa	stomach
10	chr1:155747600-155787200	Weak transcription	Esophagus	oesophagus
11	chr1:155747800-155785600	Weak transcription	Fetal Brain Male	brain
12	chr1:155747800-155791200	Weak transcription	Fetal Heart	heart
13	chr1:155748000-155789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:155751800-155777600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:155755600-155777400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:155758000-155777200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:155758200-155777200	Strong transcription	Fetal Intestine Large	intestine
18	chr1:155758800-155778400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:155759000-155777200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:155759200-155777400	Strong transcription	Placenta	Placenta
21	chr1:155760200-155777200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:155760400-155779000	Strong transcription	Thymus	Thymus
23	chr1:155760800-155777200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:155761600-155776800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:155761600-155778400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr1:155761800-155777000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:155761800-155777200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:155762000-155777200	Strong transcription	Liver	Liver
29	chr1:155762200-155798000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:155762600-155779200	Strong transcription	Fetal Stomach	stomach
31	chr1:155762600-155785000	Strong transcription	Fetal Intestine Small	intestine
32	chr1:155762800-155779200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:155763000-155779000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:155765200-155803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:155765200-155813200	Weak transcription	Psoas Muscle	Psoas
36	chr1:155766200-155777200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:155766200-155782800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:155766400-155776800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:155767200-155779200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:155768000-155777000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:155768400-155777600	Strong transcription	Primary B cells from cord blood	blood
42	chr1:155768600-155777200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:155768600-155778600	Strong transcription	Primary T cells from cord blood	blood
44	chr1:155768600-155779000	Strong transcription	Dnd41	blood
45	chr1:155769800-155783400	Weak transcription	NHLF	lung
46	chr1:155771200-155783000	Weak transcription	A549	lung
47	chr1:155771400-155798400	Strong transcription	Fetal Muscle Leg	muscle
48	chr1:155771600-155776800	Strong transcription	Left Ventricle	heart
49	chr1:155771600-155776800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr1:155771600-155777200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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