Variant report

Variant	rs17123943
Chromosome Location	chr12:50155434-50155435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr12:50141258..50143607-chr12:50154074..50155843,2	K562	blood:
7	chr12:50154656..50158705-chr12:50162425..50165321,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139644	Chromatin interaction
ENSG00000257730	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17123790	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap]
rs17123865	1.00[YRI][hapmap]
rs17123919	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123922	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144469	1.00[JPT][hapmap]
rs4569075	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.89[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	chr12:50145000-50156000	Strong transcription	Dnd41	blood
2	chr12:50145000-50157000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:50145000-50159200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:50145800-50159200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:50146000-50157000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr12:50146000-50159000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:50146000-50159000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:50146000-50159000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:50146200-50155800	Strong transcription	Primary T cells from cord blood	blood
10	chr12:50146200-50156000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr12:50146200-50156200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:50146200-50159000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:50146200-50159000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:50146200-50159000	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr12:50146200-50159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:50146200-50159200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:50146200-50159200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:50146200-50159200	Strong transcription	Placenta	Placenta
19	chr12:50146400-50156200	Strong transcription	HUVEC	blood vessel
20	chr12:50146400-50158200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:50146400-50158400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr12:50146400-50158400	Strong transcription	Fetal Lung	lung
23	chr12:50146400-50158400	Strong transcription	Ovary	ovary
24	chr12:50146400-50159000	Strong transcription	Brain Germinal Matrix	brain
25	chr12:50146400-50159200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:50146400-50159200	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr12:50146400-50159400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:50146400-50159400	Strong transcription	Fetal Brain Female	brain
29	chr12:50146400-50159600	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr12:50146400-50159800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:50146600-50156200	Strong transcription	Thymus	Thymus
32	chr12:50146600-50157000	Strong transcription	Adipose Nuclei	Adipose
33	chr12:50146600-50158200	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr12:50146600-50158400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:50146600-50159000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:50146600-50159000	Strong transcription	Colonic Mucosa	Colon
37	chr12:50146600-50159200	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:50146600-50160000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:50146600-50160800	Strong transcription	Fetal Muscle Leg	muscle
40	chr12:50146600-50160800	Strong transcription	Fetal Stomach	stomach
41	chr12:50146800-50158000	Strong transcription	Lung	lung
42	chr12:50146800-50158200	Strong transcription	Rectal Smooth Muscle	rectum
43	chr12:50146800-50159000	Strong transcription	Aorta	Aorta
44	chr12:50146800-50159200	Strong transcription	Gastric	stomach
45	chr12:50147000-50159000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:50147000-50159000	Strong transcription	Pancreas	Pancrea
47	chr12:50147000-50159400	Strong transcription	Fetal Intestine Large	intestine
48	chr12:50147200-50156200	Strong transcription	Spleen	Spleen
49	chr12:50147200-50160200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr12:50147200-50161000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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