Variant report

Variant	rs1933295
Chromosome Location	chr1:62107021-62107022
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	chr1:62106350..62108369-chr1:62114638..62116326,2	K562	blood:
2	chr1:61519880..61523708-chr1:62105298..62109732,4	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10736397	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10736398	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10889245	0.89[EUR][1000 genomes]
rs11207794	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12567173	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2029858	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6666322	0.86[AMR][1000 genomes]
rs6668107	0.88[EUR][1000 genomes]
rs6686620	0.90[EUR][1000 genomes]
rs870674	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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	6 gene(s)	inside rSNPs	diseases
5	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases
8	nsv1007318	chr1:62083960-62113102	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv1831777	chr1:62086216-62119201	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv508226	chr1:62091093-62140604	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv546377	chr1:62103021-62116913	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62102800-62107200	Weak transcription	Stomach Mucosa	stomach
2	chr1:62103000-62107200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:62103000-62107200	Weak transcription	HUVEC	blood vessel
4	chr1:62103400-62108000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:62103400-62146400	Weak transcription	Gastric	stomach
6	chr1:62103800-62107400	Enhancers	Aorta	Aorta
7	chr1:62103800-62108000	Enhancers	Fetal Stomach	stomach
8	chr1:62103800-62108000	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:62104400-62108400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:62104800-62107200	Weak transcription	NHDF-Ad	bronchial
11	chr1:62105200-62107800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:62105200-62109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:62105400-62108200	Weak transcription	Esophagus	oesophagus
14	chr1:62106200-62107200	Enhancers	Right Atrium	heart
15	chr1:62106200-62107800	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:62106400-62107200	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:62106400-62107200	Enhancers	K562	blood
18	chr1:62106400-62107600	Active TSS	Brain Anterior Caudate	brain
19	chr1:62106400-62107800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:62106600-62107200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:62106600-62107400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr1:62106600-62107600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:62106600-62107600	Active TSS	Brain Hippocampus Middle	brain
24	chr1:62106600-62107800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr1:62106600-62107800	Active TSS	Brain Substantia Nigra	brain
26	chr1:62106800-62107200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr1:62106800-62107200	Active TSS	Brain Cingulate Gyrus	brain
28	chr1:62106800-62107200	Weak transcription	Colonic Mucosa	Colon
29	chr1:62106800-62107200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:62106800-62107400	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr1:62106800-62107400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr1:62106800-62107400	Enhancers	Brain Germinal Matrix	brain
33	chr1:62106800-62107400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr1:62106800-62107400	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:62106800-62107600	Active TSS	Fetal Brain Female	brain
36	chr1:62106800-62107600	Active TSS	GM12878-XiMat	blood
37	chr1:62106800-62107800	Active TSS	Primary B cells from cord blood	blood
38	chr1:62106800-62107800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr1:62106800-62108000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:62106800-62108000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:62106800-62108000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:62106800-62108200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:62106800-62108400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:62106800-62108600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:62106800-62108600	Enhancers	Fetal Thymus	thymus
46	chr1:62107000-62107200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:62107000-62107200	Active TSS	Primary T cells fromperipheralblood	blood
48	chr1:62107000-62107200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:62107000-62107200	Enhancers	Adipose Nuclei	Adipose
50	chr1:62107000-62107200	Weak transcription	Ovary	ovary

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