Variant report

Variant	rs284155
Chromosome Location	chr1:92273378-92273379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92271912..92274176-chr1:92284969..92287951,2	K562	blood:
2	chr1:92269279..92272009-chr1:92273334..92276001,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12075049	1.00[AMR][1000 genomes]
rs205710	0.83[AFR][1000 genomes]
rs2634038	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799528	1.00[AMR][1000 genomes]
rs284138	0.83[AFR][1000 genomes]
rs284145	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs284166	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs901916	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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:72 , 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	chr1:92262800-92277000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:92264800-92284200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:92266800-92277400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:92267800-92273400	Enhancers	Adipose Nuclei	Adipose
6	chr1:92268200-92274600	Enhancers	Placenta	Placenta
7	chr1:92268400-92273400	Enhancers	Fetal Lung	lung
8	chr1:92268400-92273400	Enhancers	Fetal Muscle Leg	muscle
9	chr1:92268400-92273400	Enhancers	Lung	lung
10	chr1:92268600-92273400	Enhancers	Right Ventricle	heart
11	chr1:92268600-92273400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:92268600-92275200	Enhancers	NHDF-Ad	bronchial
13	chr1:92268600-92275800	Enhancers	Pancreas	Pancrea
14	chr1:92268800-92273400	Enhancers	Colon Smooth Muscle	Colon
15	chr1:92268800-92273400	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr1:92268800-92273400	Enhancers	NHLF	lung
17	chr1:92269000-92273400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:92269200-92273400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:92269200-92273400	Enhancers	Fetal Kidney	kidney
20	chr1:92269400-92273400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:92269400-92275600	Enhancers	Fetal Heart	heart
22	chr1:92269600-92273600	Enhancers	Ovary	ovary
23	chr1:92269600-92275800	Enhancers	Left Ventricle	heart
24	chr1:92270000-92278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:92270200-92274800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:92270200-92276800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:92270400-92273400	Enhancers	Spleen	Spleen
28	chr1:92270400-92274800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:92270400-92274800	Weak transcription	HSMM	muscle
30	chr1:92270400-92275600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:92270400-92277600	Weak transcription	Brain Anterior Caudate	brain
32	chr1:92270600-92273400	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:92270600-92274800	Weak transcription	Esophagus	oesophagus
34	chr1:92271000-92274000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:92271200-92274600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:92271200-92276200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:92271400-92273400	Enhancers	Stomach Smooth Muscle	stomach
38	chr1:92271400-92274600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:92271400-92274800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:92271400-92274800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:92271400-92275000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:92271400-92276000	Weak transcription	Primary T cells from cord blood	blood
43	chr1:92271600-92274000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:92271600-92274600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:92271600-92274600	Weak transcription	GM12878-XiMat	blood
46	chr1:92271600-92274800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:92271600-92274800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:92271800-92273400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:92271800-92273400	Enhancers	Small Intestine	intestine
50	chr1:92271800-92273400	Enhancers	HepG2	liver

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