Variant report

Variant	rs796736
Chromosome Location	chr12:104357168-104357169
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:104356234-104357190	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:104356140-104357240	SK-N-MC	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104356512..104358461-chr12:104416021..104418355,2	K562	blood:
2	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
3	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
4	chr12:104324052..104326463-chr12:104355875..104358112,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TDG-1	chr12:104357017-104357920	NONHSAT030400

No data

Variant related genes	Relation type
TDG	TF binding region
ENSG00000120837	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000166598	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1177458	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs172814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254063	0.82[EUR][1000 genomes]
rs2254064	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2576973	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2583227	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583251	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583260	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583261	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2583263	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583277	0.83[EUR][1000 genomes]
rs2629768	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2629770	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2629771	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2629779	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2700510	0.91[AFR][1000 genomes]
rs2722200	0.91[AFR][1000 genomes]
rs2723846	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723847	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2723876	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs322102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs322105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs322106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs322107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs322108	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs322110	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs784081	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1799879	chr12:104351057-104360713	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs796736	KRTHB5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104351400-104358000	Weak transcription	Lung	lung
2	chr12:104351400-104358000	Weak transcription	Spleen	Spleen
3	chr12:104351600-104357200	Weak transcription	GM12878-XiMat	blood
4	chr12:104351600-104357400	Weak transcription	Fetal Lung	lung
5	chr12:104351600-104357400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:104351600-104357600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:104351600-104357600	Weak transcription	NHLF	lung
8	chr12:104351600-104357800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:104351600-104357800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:104351600-104357800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:104351600-104357800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:104351600-104357800	Weak transcription	HSMMtube	muscle
13	chr12:104351600-104357800	Weak transcription	NHDF-Ad	bronchial
14	chr12:104351600-104357800	Weak transcription	NHEK	skin
15	chr12:104351600-104357800	Weak transcription	Osteobl	bone
16	chr12:104351600-104358000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:104351600-104358000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:104351600-104358000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:104351600-104358000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:104351600-104358000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:104351600-104358000	Weak transcription	Esophagus	oesophagus
22	chr12:104351600-104358000	Weak transcription	Fetal Intestine Small	intestine
23	chr12:104351600-104358000	Weak transcription	Ovary	ovary
24	chr12:104351600-104358000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:104351600-104358000	Weak transcription	Right Ventricle	heart
26	chr12:104351600-104358000	Weak transcription	Thymus	Thymus
27	chr12:104351600-104358000	Weak transcription	HMEC	breast
28	chr12:104351600-104358200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:104351600-104358200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:104351600-104358200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:104351600-104358200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:104351600-104358200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:104351600-104358200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:104351600-104358200	Weak transcription	Aorta	Aorta
35	chr12:104351600-104358200	Weak transcription	Brain Anterior Caudate	brain
36	chr12:104351600-104358200	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:104351600-104358200	Weak transcription	Fetal Stomach	stomach
38	chr12:104351600-104358400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:104351600-104358400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr12:104351800-104358200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:104352000-104357600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:104352000-104357600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:104352000-104357800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:104352000-104357800	Weak transcription	Adipose Nuclei	Adipose
45	chr12:104352000-104357800	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:104352000-104358000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr12:104352000-104358000	Weak transcription	Left Ventricle	heart
48	chr12:104352000-104358400	Weak transcription	Primary B cells from cord blood	blood
49	chr12:104352200-104357200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:104352200-104357600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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