Variant report

Variant	rs73011288
Chromosome Location	chr1:150134720-150134721
allele	C/T
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 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	chr1:150134477..150137010-chr1:150153279..150155439,2	K562	blood:
5	chr1:150045026..150046248-chr1:150134083..150135043,5	MCF-7	breast:
6	chr1:150133635..150136793-chr1:150204165..150209433,5	K562	blood:
7	chr1:149909348..149911287-chr1:150133137..150136062,3	MCF-7	breast:
8	chr1:149906675..149908873-chr1:150134485..150137419,3	MCF-7	breast:
9	chr1:150134055..150139099-chr1:150139132..150143915,8	K562	blood:
10	chr1:150037224..150041771-chr1:150132970..150138750,9	MCF-7	breast:
11	chr1:150035483..150047454-chr1:150129931..150138567,28	MCF-7	breast:
12	chr1:149814399..149818265-chr1:150133818..150137091,5	MCF-7	breast:
13	chr1:150046641..150049540-chr1:150134535..150136956,3	K562	blood:
14	chr1:149854077..149861961-chr1:150131511..150145996,30	MCF-7	breast:
15	chr1:150133945..150135977-chr1:150153279..150155573,2	K562	blood:
16	chr1:150110150..150112149-chr1:150133607..150135981,2	K562	blood:
17	chr1:150134189..150134914-chr8:25653125..25653625,2	MCF-7	breast:
18	chr1:149856989..149863100-chr1:150133834..150145484,23	MCF-7	breast:
19	chr1:150133612..150139451-chr1:150205752..150208601,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272993	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000183558	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000220323	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000143401	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61752307	1.00[EUR][1000 genomes]
rs73005621	1.00[EUR][1000 genomes]
rs73011255	0.83[AFR][1000 genomes]
rs73011269	0.83[AFR][1000 genomes]
rs73011280	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73011283	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73016156	0.83[AFR][1000 genomes]
rs73020871	1.00[EUR][1000 genomes]
rs73020873	1.00[EUR][1000 genomes]
rs74124314	1.00[EUR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150123200-150135400	Weak transcription	A549	lung
2	chr1:150131600-150135000	Enhancers	Ovary	ovary
3	chr1:150131800-150135400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr1:150131800-150135600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr1:150131800-150135800	Weak transcription	Esophagus	oesophagus
6	chr1:150131800-150136000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr1:150131800-150138600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr1:150132000-150134800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:150132000-150136000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:150132200-150135000	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:150132200-150135800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:150132200-150135800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:150132200-150136200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:150132200-150136200	Enhancers	HUVEC	blood vessel
15	chr1:150132200-150136400	Enhancers	Placenta	Placenta
16	chr1:150132200-150136800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:150132400-150135600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:150132400-150136200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr1:150132400-150138200	Weak transcription	Gastric	stomach
20	chr1:150132400-150141200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:150132800-150134800	Enhancers	NHDF-Ad	bronchial
22	chr1:150132800-150135400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr1:150132800-150135400	Flanking Active TSS	GM12878-XiMat	blood
24	chr1:150132800-150136200	Enhancers	Small Intestine	intestine
25	chr1:150132800-150136400	Enhancers	Spleen	Spleen
26	chr1:150132800-150138400	Enhancers	Fetal Heart	heart
27	chr1:150133000-150134800	Enhancers	Brain Hippocampus Middle	brain
28	chr1:150133000-150135600	Enhancers	Colonic Mucosa	Colon
29	chr1:150133000-150136000	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr1:150133000-150136000	Enhancers	Dnd41	blood
31	chr1:150133000-150137400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr1:150133200-150134800	Enhancers	Fetal Thymus	thymus
33	chr1:150133200-150135000	Enhancers	Fetal Intestine Large	intestine
34	chr1:150133200-150135000	Enhancers	Fetal Intestine Small	intestine
35	chr1:150133200-150135000	Enhancers	HSMMtube	muscle
36	chr1:150133400-150134800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:150133400-150135000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:150133400-150135000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:150133400-150135000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:150133400-150135000	Enhancers	Right Atrium	heart
41	chr1:150133400-150136000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:150133400-150136000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:150133600-150134800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:150133600-150134800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:150133600-150134800	Enhancers	Primary B cells from peripheral blood	blood
46	chr1:150133600-150134800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:150133600-150134800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:150133600-150134800	Enhancers	Fetal Muscle Leg	muscle
49	chr1:150133600-150134800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr1:150133600-150134800	Enhancers	NH-A	brain

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