Variant report

Variant	rs74126489
Chromosome Location	chr1:173988335-173988336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:173988197-173988878	SK-N-SH	brain:	n/a	n/a
2	MYC	chr1:173988323-173988636	MCF10A-Er-Src	breast:	n/a	chr1:173988496-173988507

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173831906..173839548-chr1:173987374..173993282,15	MCF-7	breast:
2	chr1:173836552..173838419-chr1:173986133..173988640,2	K562	blood:
3	chr1:173971026..173973965-chr1:173986548..173989476,2	K562	blood:
4	chr1:171748445..171750403-chr1:173987079..173989780,2	MCF-7	breast:
5	chr1:173986528..173988374-chr1:174128937..174131109,2	K562	blood:
6	chr1:173831314..173839948-chr1:173984831..173993131,14	MCF-7	breast:

No data

Variant related genes	Relation type
RC3H1-IT1	TF binding region
ENSG00000224977	TF binding region
ENSG00000185278	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000227373	Chromatin interaction
ENSG00000208317	Chromatin interaction
ENSG00000234741	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs60060044	0.91[AFR][1000 genomes]
rs74126485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128325	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv872551	chr1:173913804-174025660	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 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	chr1:173962000-173988400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:173962200-173989000	Weak transcription	Fetal Kidney	kidney
3	chr1:173962200-173989600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:173962200-173989600	Weak transcription	Aorta	Aorta
5	chr1:173962200-173989800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:173962200-173990400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:173962600-173988400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:173962600-173988600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:173962600-173989400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:173962800-173989800	Weak transcription	Placenta	Placenta
11	chr1:173965000-173989600	Weak transcription	Fetal Thymus	thymus
12	chr1:173966200-173989800	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:173966400-173989600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:173966400-173989800	Weak transcription	Esophagus	oesophagus
15	chr1:173971200-173988400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:173976600-173990000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:173977200-173989200	Weak transcription	NH-A	brain
18	chr1:173977800-173988400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:173978600-173989200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:173978800-173990200	Weak transcription	Spleen	Spleen
21	chr1:173979400-173989200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:173979800-173989600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:173981400-173989800	Weak transcription	Pancreas	Pancrea
24	chr1:173983000-173989600	Enhancers	Liver	Liver
25	chr1:173983200-173988400	Weak transcription	NHEK	skin
26	chr1:173984000-173989600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:173984800-173988400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:173984800-173989600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr1:173985200-173989600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:173985200-173989800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:173985800-173989400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:173985800-173989400	Enhancers	HepG2	liver
33	chr1:173986000-173988600	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:173986000-173988600	Enhancers	Small Intestine	intestine
35	chr1:173986000-173988600	Enhancers	Stomach Mucosa	stomach
36	chr1:173986000-173989000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr1:173986000-173989000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:173986000-173989000	Enhancers	Duodenum Mucosa	Duodenum
39	chr1:173986000-173989000	Active TSS	GM12878-XiMat	blood
40	chr1:173986000-173989200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:173986000-173989200	Enhancers	Brain Substantia Nigra	brain
42	chr1:173986000-173989400	Enhancers	Brain Anterior Caudate	brain
43	chr1:173986000-173989600	Enhancers	Primary T cells from cord blood	blood
44	chr1:173986000-173989600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr1:173986000-173989600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:173986000-173989600	Enhancers	Adipose Nuclei	Adipose
47	chr1:173986000-173990000	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr1:173986000-173990200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:173986200-173988400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr1:173986200-173988600	Enhancers	Stomach Smooth Muscle	stomach

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