Variant report

Variant	rs551200589
Chromosome Location	chr1:93249431-93249432
allele	-/CTA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93248724..93252766-chr1:93297083..93300077,5	MCF-7	breast:
2	chr1:93249024..93254901-chr1:93255339..93260264,13	K562	blood:
3	chr1:93249360..93255989-chr1:93295958..93302033,8	K562	blood:
4	chr1:93219197..93221453-chr1:93249271..93251757,2	K562	blood:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction
ENSG00000067208	Chromatin interaction
ENSG00000223896	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	esv3379601	chr1:93249189-93251737	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93240800-93249600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:93243400-93249600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:93244800-93249800	Weak transcription	Esophagus	oesophagus
4	chr1:93246000-93249600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:93246000-93249600	Weak transcription	Small Intestine	intestine
6	chr1:93247800-93252000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:93248000-93249600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:93248000-93251800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:93248200-93249600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:93248400-93249600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:93248400-93249600	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:93248400-93249600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:93248400-93249800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr1:93248400-93251200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:93248600-93249600	Enhancers	Fetal Brain Male	brain
16	chr1:93248600-93250800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:93248600-93251400	Active TSS	Right Ventricle	heart
18	chr1:93248600-93251600	Active TSS	NHLF	lung
19	chr1:93248800-93249600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:93248800-93249600	Weak transcription	Gastric	stomach
21	chr1:93248800-93250000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:93248800-93251000	Active TSS	Hela-S3	cervix
23	chr1:93248800-93251000	Active TSS	NHEK	skin
24	chr1:93249000-93249600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:93249000-93249600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:93249000-93249600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
27	chr1:93249000-93249600	Active TSS	Brain Germinal Matrix	brain
28	chr1:93249000-93249600	Weak transcription	Lung	lung
29	chr1:93249000-93250000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:93249000-93250800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:93249000-93251000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:93249000-93251000	Active TSS	HSMM	muscle
33	chr1:93249000-93251400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:93249000-93251400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:93249000-93251400	Active TSS	Aorta	Aorta
36	chr1:93249000-93251600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:93249000-93251600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:93249000-93251600	Active TSS	Stomach Smooth Muscle	stomach
39	chr1:93249000-93251800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr1:93249200-93249600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
41	chr1:93249200-93249600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:93249200-93249600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr1:93249200-93249600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:93249200-93249600	Active TSS	Placenta	Placenta
45	chr1:93249200-93249600	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr1:93249200-93249600	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr1:93249200-93249600	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr1:93249200-93249800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:93249200-93249800	Enhancers	Spleen	Spleen
50	chr1:93249200-93250000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links