Variant report

Variant	rs277401
Chromosome Location	chr1:75189770-75189771
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs277372	1.00[AFR][1000 genomes]
rs277373	1.00[AFR][1000 genomes]
rs277382	1.00[AFR][1000 genomes]
rs277383	0.90[AFR][1000 genomes]
rs277399	0.90[AFR][1000 genomes]
rs277403	1.00[AFR][1000 genomes]
rs366834	1.00[AFR][1000 genomes]
rs448759	1.00[AFR][1000 genomes]
rs494565	1.00[AFR][1000 genomes]
rs520882	1.00[AFR][1000 genomes]
rs569720	1.00[AFR][1000 genomes]
rs699803	0.81[AFR][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	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv871152	chr1:75152186-75197533	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75166400-75191400	Weak transcription	Placenta	Placenta
2	chr1:75166600-75194800	Weak transcription	Esophagus	oesophagus
3	chr1:75167000-75197200	Weak transcription	Right Ventricle	heart
4	chr1:75167600-75190600	Strong transcription	Liver	Liver
5	chr1:75167600-75190800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:75167800-75190000	Strong transcription	Adipose Nuclei	Adipose
7	chr1:75169400-75190600	Strong transcription	Primary B cells from cord blood	blood
8	chr1:75169400-75191600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:75169800-75191800	Weak transcription	Colonic Mucosa	Colon
10	chr1:75171000-75197200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:75171800-75189800	Strong transcription	HepG2	liver
12	chr1:75174800-75198000	Weak transcription	Thymus	Thymus
13	chr1:75175400-75196000	Weak transcription	HSMMtube	muscle
14	chr1:75176800-75191600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:75177400-75191600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:75177400-75191600	Weak transcription	Gastric	stomach
17	chr1:75177400-75191800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:75178000-75191800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:75179000-75189800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:75179400-75191200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:75179600-75189800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr1:75179600-75191200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:75179800-75191600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:75179800-75191600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:75180000-75191000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:75180000-75196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:75180400-75189800	Strong transcription	Fetal Lung	lung
28	chr1:75180400-75191000	Strong transcription	A549	lung
29	chr1:75180400-75197200	Weak transcription	Psoas Muscle	Psoas
30	chr1:75180600-75191200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:75180800-75190800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:75180800-75190800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:75180800-75190800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:75181000-75189800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:75181400-75190600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:75181600-75190600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:75182200-75191000	Strong transcription	NHDF-Ad	bronchial
38	chr1:75183000-75198400	Weak transcription	Fetal Brain Male	brain
39	chr1:75183200-75190400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:75183600-75190600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:75183800-75189800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:75183800-75194000	Weak transcription	Fetal Heart	heart
43	chr1:75184200-75190000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:75184400-75189800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr1:75184400-75191600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:75184800-75191000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:75185000-75191600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:75185600-75190800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:75185800-75191000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:75186200-75191600	Weak transcription	Fetal Stomach	stomach

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