Variant report

Variant	rs284161
Chromosome Location	chr1:92269982-92269983
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92245858..92248144-chr1:92269665..92271280,2	K562	blood:
2	chr1:92269279..92272009-chr1:92273334..92276001,3	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1032255	1.00[CEU][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10874980	0.81[JPT][hapmap]
rs11799400	0.88[CEU][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12027931	0.89[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1352438	1.00[CEU][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1488692	0.90[CEU][hapmap]
rs1805109	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs1805110	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs1906586	0.85[EUR][1000 genomes]
rs2046737	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs2087300	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2129972	1.00[CEU][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2129973	1.00[CEU][hapmap];0.83[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256471	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2265863	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2391070	1.00[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2450926	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs2450927	0.85[EUR][1000 genomes]
rs2489169	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489170	0.85[EUR][1000 genomes]
rs2489171	0.85[EUR][1000 genomes]
rs2489176	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489178	0.90[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489184	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2489185	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489186	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489189	0.89[CEU][hapmap]
rs2489192	0.85[EUR][1000 genomes]
rs2634019	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2634020	0.82[EUR][1000 genomes]
rs2634022	0.85[EUR][1000 genomes]
rs2634023	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2634024	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs2634025	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2634026	0.85[EUR][1000 genomes]
rs2634027	0.85[EUR][1000 genomes]
rs2634028	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2634029	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634030	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2634032	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2634033	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2634034	1.00[CEU][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2634036	1.00[CEU][hapmap];0.83[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2799512	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2799514	0.85[EUR][1000 genomes]
rs2799515	0.85[EUR][1000 genomes]
rs2799516	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2799517	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2799521	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2799522	1.00[CEU][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2799523	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799524	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2799525	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2799539	0.83[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2799547	1.00[CEU][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2810903	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284141	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs284146	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284148	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284150	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284151	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs284160	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs284162	0.90[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs284163	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs284164	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3103332	1.00[CEU][hapmap];0.83[JPT][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3103333	1.00[EUR][1000 genomes]
rs428815	0.88[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs449960	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs717923	0.83[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7550856	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs901913	1.00[CEU][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901914	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901915	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs901917	1.00[CEU][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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	4 gene(s)	inside rSNPs	diseases
8	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92257600-92279400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:92258400-92271400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:92258600-92270000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:92258800-92272400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:92260400-92271200	Strong transcription	HepG2	liver
6	chr1:92262800-92277000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:92263000-92270000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:92264600-92271800	Weak transcription	Aorta	Aorta
9	chr1:92264800-92284200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:92265200-92270000	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:92265200-92271400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:92266800-92277400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:92267800-92273400	Enhancers	Adipose Nuclei	Adipose
14	chr1:92268200-92270600	Enhancers	Esophagus	oesophagus
15	chr1:92268200-92274600	Enhancers	Placenta	Placenta
16	chr1:92268400-92270600	Enhancers	Right Atrium	heart
17	chr1:92268400-92272800	Enhancers	Fetal Thymus	thymus
18	chr1:92268400-92273400	Enhancers	Fetal Lung	lung
19	chr1:92268400-92273400	Enhancers	Fetal Muscle Leg	muscle
20	chr1:92268400-92273400	Enhancers	Lung	lung
21	chr1:92268600-92270000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:92268600-92270400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:92268600-92270400	Genic enhancers	Fetal Stomach	stomach
24	chr1:92268600-92270600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:92268600-92270800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:92268600-92271600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:92268600-92272000	Enhancers	Fetal Muscle Trunk	muscle
28	chr1:92268600-92273400	Enhancers	Right Ventricle	heart
29	chr1:92268600-92273400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:92268600-92275200	Enhancers	NHDF-Ad	bronchial
31	chr1:92268600-92275800	Enhancers	Pancreas	Pancrea
32	chr1:92268800-92270000	Enhancers	Stomach Smooth Muscle	stomach
33	chr1:92268800-92270200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:92268800-92270200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr1:92268800-92270200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:92268800-92270200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:92268800-92270200	Enhancers	Small Intestine	intestine
38	chr1:92268800-92270400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr1:92268800-92270400	Enhancers	Brain Anterior Caudate	brain
40	chr1:92268800-92271800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:92268800-92272000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:92268800-92273400	Enhancers	Colon Smooth Muscle	Colon
43	chr1:92268800-92273400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr1:92268800-92273400	Enhancers	NHLF	lung
45	chr1:92269000-92270200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr1:92269000-92270400	Enhancers	Primary B cells from peripheral blood	blood
47	chr1:92269000-92270400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr1:92269000-92270400	Enhancers	Primary hematopoietic stem cells	blood
49	chr1:92269000-92271000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:92269000-92271000	Weak transcription	Psoas Muscle	Psoas

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