Variant report

Variant	rs72694955
Chromosome Location	chr1:150133507-150133508
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150059899..150062299-chr1:150132296..150134996,2	K562	blood:
2	chr1:149854392..149861957-chr1:150131544..150142194,21	K562	blood:
3	chr1:149852970..149861957-chr1:150133189..150142962,24	K562	blood:
4	chr1:150131401..150134100-chr2:110369407..110372211,2	MCF-7	breast:
5	chr1:149909348..149911287-chr1:150133137..150136062,3	MCF-7	breast:
6	chr1:150053878..150056671-chr1:150132112..150134683,2	MCF-7	breast:
7	chr1:150037224..150041771-chr1:150132970..150138750,9	MCF-7	breast:
8	chr1:150035483..150047454-chr1:150129931..150138567,28	MCF-7	breast:
9	chr1:149854077..149861961-chr1:150131511..150145996,30	MCF-7	breast:
10	chr1:150089379..150091051-chr1:150132351..150134361,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136631	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000186522	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000198142	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56397877	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72692873	1.00[AMR][1000 genomes]

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	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv535152	chr1:150120726-150143089	Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150123200-150135400	Weak transcription	A549	lung
2	chr1:150123400-150134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:150123400-150134400	Weak transcription	NHEK	skin
4	chr1:150123800-150134200	Weak transcription	HMEC	breast
5	chr1:150123800-150134600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:150125200-150133600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:150125400-150133600	Genic enhancers	NH-A	brain
8	chr1:150128400-150133600	Weak transcription	Fetal Brain Male	brain
9	chr1:150129800-150134600	Weak transcription	Brain Angular Gyrus	brain
10	chr1:150130000-150133800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:150130200-150133600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:150130200-150134600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:150130200-150134600	Weak transcription	Psoas Muscle	Psoas
14	chr1:150130400-150133800	Genic enhancers	Fetal Lung	lung
15	chr1:150130800-150133600	Genic enhancers	Fetal Muscle Leg	muscle
16	chr1:150130800-150133800	Genic enhancers	Fetal Stomach	stomach
17	chr1:150131200-150134400	Weak transcription	HepG2	liver
18	chr1:150131400-150134600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:150131600-150133800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:150131600-150135000	Enhancers	Ovary	ovary
21	chr1:150131800-150133600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:150131800-150133800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr1:150131800-150135400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr1:150131800-150135600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr1:150131800-150135800	Weak transcription	Esophagus	oesophagus
26	chr1:150131800-150136000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr1:150131800-150138600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:150132000-150133600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:150132000-150134000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:150132000-150134000	Weak transcription	Lung	lung
31	chr1:150132000-150134200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:150132000-150134200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:150132000-150134800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:150132000-150136000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:150132200-150133800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:150132200-150134000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr1:150132200-150134000	Weak transcription	Right Ventricle	heart
38	chr1:150132200-150134000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:150132200-150134000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:150132200-150134400	Weak transcription	Liver	Liver
41	chr1:150132200-150135000	Enhancers	Duodenum Mucosa	Duodenum
42	chr1:150132200-150135800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr1:150132200-150135800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr1:150132200-150136200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr1:150132200-150136200	Enhancers	HUVEC	blood vessel
46	chr1:150132200-150136400	Enhancers	Placenta	Placenta
47	chr1:150132200-150136800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr1:150132400-150133600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:150132400-150134000	Weak transcription	Stomach Mucosa	stomach
50	chr1:150132400-150134400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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