Variant report

Variant	rs74132038
Chromosome Location	chr1:184761009-184761010
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	chr1:184759012..184761525-chr1:184764655..184766540,2	K562	blood:
2	chr1:184758252..184761328-chr1:184761790..184766637,6	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16823452	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16823480	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823513	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2181240	1.00[EUR][1000 genomes]
rs234637	1.00[EUR][1000 genomes]
rs234638	1.00[EUR][1000 genomes]
rs234639	1.00[EUR][1000 genomes]
rs234666	1.00[EUR][1000 genomes]
rs234671	1.00[EUR][1000 genomes]
rs234675	1.00[EUR][1000 genomes]
rs28521358	1.00[EUR][1000 genomes]
rs35543943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56385425	1.00[EUR][1000 genomes]
rs56707979	1.00[EUR][1000 genomes]
rs56796054	1.00[EUR][1000 genomes]
rs58814142	1.00[EUR][1000 genomes]
rs61372488	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6664204	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs669649	1.00[EUR][1000 genomes]
rs73046783	1.00[EUR][1000 genomes]
rs73046796	1.00[EUR][1000 genomes]
rs7413163	1.00[EUR][1000 genomes]
rs74132003	1.00[EUR][1000 genomes]
rs74132025	1.00[EUR][1000 genomes]
rs74132034	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132036	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132050	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74134139	1.00[EUR][1000 genomes]
rs7520163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7521888	1.00[EUR][1000 genomes]
rs7526101	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7528332	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7541371	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184743000-184761600	Weak transcription	Aorta	Aorta
2	chr1:184752200-184761800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:184754400-184761200	Weak transcription	Left Ventricle	heart
4	chr1:184756200-184761400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:184756200-184762000	Weak transcription	GM12878-XiMat	blood
6	chr1:184756800-184794000	Weak transcription	Thymus	Thymus
7	chr1:184757000-184764200	Weak transcription	Fetal Stomach	stomach
8	chr1:184757200-184761200	Weak transcription	Spleen	Spleen
9	chr1:184757200-184761400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:184757200-184761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:184757600-184761200	Weak transcription	NHEK	skin
12	chr1:184757600-184761400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:184757600-184763400	Enhancers	Stomach Mucosa	stomach
14	chr1:184758400-184761400	Enhancers	NHDF-Ad	bronchial
15	chr1:184758600-184761400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:184758600-184761400	Weak transcription	Right Ventricle	heart
17	chr1:184758600-184768200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:184758800-184761200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:184759000-184761400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:184759000-184761400	Enhancers	Liver	Liver
21	chr1:184759200-184761600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:184759200-184762800	Enhancers	NHLF	lung
23	chr1:184759200-184762800	Enhancers	Osteobl	bone
24	chr1:184759400-184761400	Enhancers	A549	lung
25	chr1:184759600-184761200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:184759600-184761600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:184759600-184761600	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:184759600-184763400	Weak transcription	Gastric	stomach
29	chr1:184759800-184761200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:184759800-184761400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:184759800-184761400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:184759800-184761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:184759800-184761400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:184759800-184770000	Weak transcription	K562	blood
35	chr1:184760000-184762000	Enhancers	HSMM	muscle
36	chr1:184760000-184763400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:184760200-184761400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:184760200-184761400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:184760200-184764600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:184760400-184761400	Enhancers	Adipose Nuclei	Adipose
41	chr1:184760400-184762800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:184760400-184763400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:184760600-184761200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
44	chr1:184760600-184761200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr1:184760800-184761400	Enhancers	Rectal Smooth Muscle	rectum
46	chr1:184760800-184761400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:184760800-184761400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:184760800-184761400	Enhancers	NH-A	brain
49	chr1:184760800-184761600	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr1:184760800-184761600	Enhancers	HepG2	liver

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