Variant report

Variant	rs73309017
Chromosome Location	chr12:50156079-50156080
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50145939..50150220-chr12:50153962..50160201,9	K562	blood:
2	chr12:50154851..50157744-chr12:50364443..50366192,2	K562	blood:
3	chr12:50133826..50140112-chr12:50153972..50158501,10	K562	blood:
4	chr12:50134643..50139812-chr12:50155423..50161657,9	MCF-7	breast:
5	chr12:50142620..50145126-chr12:50154373..50156902,2	MCF-7	breast:
6	chr12:50133826..50139217-chr12:50155590..50158572,9	K562	blood:
7	chr12:50154656..50158705-chr12:50162425..50165321,4	MCF-7	breast:
8	chr12:50155625..50159453-chr12:50163037..50166933,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139644	Chromatin interaction
ENSG00000257730	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12300376	1.00[EUR][1000 genomes]
rs12300919	1.00[EUR][1000 genomes]
rs12300962	1.00[EUR][1000 genomes]
rs12306951	1.00[EUR][1000 genomes]
rs12316175	1.00[EUR][1000 genomes]
rs1317263	1.00[EUR][1000 genomes]
rs17119738	1.00[EUR][1000 genomes]
rs17123724	1.00[EUR][1000 genomes]
rs17123729	1.00[EUR][1000 genomes]
rs17123778	1.00[EUR][1000 genomes]
rs17123787	1.00[EUR][1000 genomes]
rs57046047	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57124034	1.00[AMR][1000 genomes]
rs57625108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58039341	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61438877	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305065	1.00[AMR][1000 genomes]
rs73305068	1.00[AMR][1000 genomes]
rs73305070	1.00[AMR][1000 genomes]
rs73305081	1.00[AMR][1000 genomes]
rs73305100	1.00[AMR][1000 genomes]
rs73305101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306844	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306846	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306864	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73306865	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306875	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306891	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309004	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309010	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309013	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50145000-50157000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:50145000-50159200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:50145800-50159200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:50146000-50157000	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr12:50146000-50159000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:50146000-50159000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:50146000-50159000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:50146200-50156200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:50146200-50159000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:50146200-50159000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:50146200-50159000	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr12:50146200-50159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:50146200-50159200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:50146200-50159200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:50146200-50159200	Strong transcription	Placenta	Placenta
16	chr12:50146400-50156200	Strong transcription	HUVEC	blood vessel
17	chr12:50146400-50158200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:50146400-50158400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr12:50146400-50158400	Strong transcription	Fetal Lung	lung
20	chr12:50146400-50158400	Strong transcription	Ovary	ovary
21	chr12:50146400-50159000	Strong transcription	Brain Germinal Matrix	brain
22	chr12:50146400-50159200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:50146400-50159200	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr12:50146400-50159400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:50146400-50159400	Strong transcription	Fetal Brain Female	brain
26	chr12:50146400-50159600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr12:50146400-50159800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:50146600-50156200	Strong transcription	Thymus	Thymus
29	chr12:50146600-50157000	Strong transcription	Adipose Nuclei	Adipose
30	chr12:50146600-50158200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr12:50146600-50158400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:50146600-50159000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:50146600-50159000	Strong transcription	Colonic Mucosa	Colon
34	chr12:50146600-50159200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:50146600-50160000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:50146600-50160800	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:50146600-50160800	Strong transcription	Fetal Stomach	stomach
38	chr12:50146800-50158000	Strong transcription	Lung	lung
39	chr12:50146800-50158200	Strong transcription	Rectal Smooth Muscle	rectum
40	chr12:50146800-50159000	Strong transcription	Aorta	Aorta
41	chr12:50146800-50159200	Strong transcription	Gastric	stomach
42	chr12:50147000-50159000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:50147000-50159000	Strong transcription	Pancreas	Pancrea
44	chr12:50147000-50159400	Strong transcription	Fetal Intestine Large	intestine
45	chr12:50147200-50156200	Strong transcription	Spleen	Spleen
46	chr12:50147200-50160200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr12:50147200-50161000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:50147600-50157200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:50147600-50158400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:50147600-50160000	Strong transcription	Fetal Intestine Small	intestine

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