Variant report

Variant	rs73020871
Chromosome Location	chr1:150141392-150141393
allele	A/G
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150037002..150041153-chr1:150141098..150145736,5	MCF-7	breast:
2	chr1:149820826..149823265-chr1:150138598..150141621,3	MCF-7	breast:
3	chr1:149854392..149861957-chr1:150131544..150142194,21	K562	blood:
4	chr1:150044821..150045736-chr1:150140877..150141818,5	K562	blood:
5	chr1:150045014..150045693-chr1:150140910..150141616,3	MCF-7	breast:
6	chr1:149852970..149861957-chr1:150133189..150142962,24	K562	blood:
7	chr1:149934041..149935815-chr1:150139481..150141616,2	K562	blood:
8	chr1:150140629..150143823-chr1:150143932..150146030,3	K562	blood:
9	chr1:150137796..150140038-chr1:150140042..150141788,3	MCF-7	breast:
10	chr1:150104962..150106475-chr1:150141108..150143267,2	K562	blood:
11	chr1:150118866..150119753-chr1:150141316..150141845,2	K562	blood:
12	chr1:150134055..150139099-chr1:150139132..150143915,8	K562	blood:
13	chr1:150035915..150039398-chr1:150141338..150144718,3	K562	blood:
14	chr1:150138530..150142932-chr1:150151575..150154325,4	K562	blood:
15	chr1:149854077..149861961-chr1:150131511..150145996,30	MCF-7	breast:
16	chr1:150044299..150047300-chr1:150141169..150143269,3	MCF-7	breast:
17	chr1:149934027..149934658-chr1:150140889..150141616,2	MCF-7	breast:
18	chr1:150044800..150045776-chr1:150140744..150141829,14	MCF-7	breast:
19	chr1:149856989..149863100-chr1:150133834..150145484,23	MCF-7	breast:
20	chr1:149935354..149935856-chr1:150141076..150141772,2	K562	blood:
21	chr1:150140887..150141824-chr15:74257188..74257727,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000203819	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000203812	Chromatin interaction
ENSG00000184270	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs3118122	1.00[AMR][1000 genomes]
rs57594441	1.00[AMR][1000 genomes]
rs60033047	1.00[AMR][1000 genomes]
rs60525620	1.00[AMR][1000 genomes]
rs60883600	1.00[AMR][1000 genomes]
rs61752307	1.00[EUR][1000 genomes]
rs73005621	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73010199	1.00[AMR][1000 genomes]
rs73010202	1.00[AMR][1000 genomes]
rs73011280	1.00[EUR][1000 genomes]
rs73011283	1.00[EUR][1000 genomes]
rs73011288	1.00[EUR][1000 genomes]
rs73020873	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150135200-150145200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:150136400-150141600	Weak transcription	Placenta	Placenta
3	chr1:150136400-150145600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:150136400-150148800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:150136600-150141600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:150136600-150145200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:150136800-150141400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:150136800-150142400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:150137200-150145400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:150138200-150141400	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:150138400-150141400	Weak transcription	Fetal Heart	heart
12	chr1:150138400-150141400	Weak transcription	Stomach Mucosa	stomach
13	chr1:150138400-150145200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:150138400-150145200	Weak transcription	Brain Anterior Caudate	brain
15	chr1:150138400-150145400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:150138400-150145400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:150138400-150157800	Weak transcription	Small Intestine	intestine
18	chr1:150138600-150141400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:150140800-150141400	Enhancers	Fetal Muscle Trunk	muscle
20	chr1:150140800-150141600	Enhancers	Primary B cells from cord blood	blood
21	chr1:150141000-150141600	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:150141000-150141600	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:150141000-150141600	Enhancers	GM12878-XiMat	blood
24	chr1:150141000-150143000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:150141000-150143400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:150141000-150143600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:150141200-150141400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr1:150141200-150141400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:150141200-150141400	Enhancers	Brain Hippocampus Middle	brain
30	chr1:150141200-150141400	Enhancers	Brain Substantia Nigra	brain
31	chr1:150141200-150141600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:150141200-150141600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:150141200-150141600	Enhancers	Fetal Intestine Large	intestine
34	chr1:150141200-150141600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr1:150141200-150141600	Enhancers	Stomach Smooth Muscle	stomach
36	chr1:150141200-150141600	Enhancers	K562	blood
37	chr1:150141200-150141800	Enhancers	Colon Smooth Muscle	Colon
38	chr1:150141200-150141800	Enhancers	Duodenum Mucosa	Duodenum
39	chr1:150141200-150141800	Enhancers	Fetal Intestine Small	intestine
40	chr1:150141200-150141800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr1:150141200-150143200	Enhancers	Monocytes-CD14+_RO01746	blood

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