Variant report

Variant	rs74120539
Chromosome Location	chr1:158028762-158028763
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158020017..158022610-chr1:158028062..158030654,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs6663748	1.00[AMR][1000 genomes]
rs74120540	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120542	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74120543	1.00[AMR][1000 genomes]
rs7526797	1.00[AFR][1000 genomes];1.00[AMR][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	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1005196	chr1:158015996-158065522	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv523208	chr1:158022217-158088687	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1003592	chr1:158024499-158061043	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157997600-158047600	Weak transcription	Dnd41	blood
2	chr1:158001200-158047400	Weak transcription	Thymus	Thymus
3	chr1:158015200-158036400	Weak transcription	Esophagus	oesophagus
4	chr1:158015600-158029800	Weak transcription	Gastric	stomach
5	chr1:158016200-158030200	Weak transcription	Fetal Intestine Small	intestine
6	chr1:158016800-158029200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:158020200-158034800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:158022800-158029000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:158023400-158035400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:158023600-158035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:158023600-158036600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:158023600-158036800	Weak transcription	NH-A	brain
13	chr1:158023600-158048800	Weak transcription	A549	lung
14	chr1:158023800-158033400	Weak transcription	HSMMtube	muscle
15	chr1:158024200-158029800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:158024200-158030200	Strong transcription	HMEC	breast
17	chr1:158024400-158033800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:158024600-158032000	Enhancers	Placenta	Placenta
19	chr1:158024800-158029200	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr1:158024800-158030200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:158025000-158029200	Weak transcription	Fetal Intestine Large	intestine
22	chr1:158025000-158030600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:158025000-158031400	Enhancers	Fetal Lung	lung
24	chr1:158025000-158031800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:158025000-158033800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:158025200-158029200	Enhancers	Ovary	ovary
27	chr1:158025600-158030800	Genic enhancers	Fetal Stomach	stomach
28	chr1:158025600-158031200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:158025800-158028800	Weak transcription	Fetal Kidney	kidney
30	chr1:158025800-158029000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:158025800-158029600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:158025800-158050000	Weak transcription	Hela-S3	cervix
33	chr1:158026000-158028800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr1:158026000-158029000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:158026000-158029400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:158026000-158036600	Weak transcription	Aorta	Aorta
37	chr1:158026000-158037600	Weak transcription	Pancreas	Pancrea
38	chr1:158026200-158029000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:158026200-158029600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:158026200-158029600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:158026400-158029600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:158026600-158034200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:158026800-158029200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:158026800-158029200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:158026800-158029200	Weak transcription	Fetal Brain Male	brain
46	chr1:158027000-158029000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:158027000-158029200	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr1:158027000-158036600	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:158027200-158029000	Strong transcription	NHEK	skin
50	chr1:158027400-158031000	Weak transcription	HSMM	muscle

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