Variant report

Variant	rs322107
Chromosome Location	chr12:104358331-104358332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:104357713-104358480	K562	blood:	n/a	n/a
2	POLR2A	chr12:104358245-104360335	K562	blood:	n/a	n/a
3	EBF1	chr12:104358174-104358411	GM12878	blood:	n/a	chr12:104358245-104358256
4	POLR2A	chr12:104358128-104358593	GM12892	blood:	n/a	n/a
5	POLR2A	chr12:104358049-104358547	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:104358246-104360260	GM19099	blood:	n/a	n/a
7	POLR2A	chr12:104358052-104360401	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr12:104357794-104360395	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr12:104358195-104361110	GM12891	blood:	n/a	n/a
10	POLR2A	chr12:104358120-104358594	K562	blood:	n/a	n/a
11	POLR2A	chr12:104357948-104358415	GM12892	blood:	n/a	n/a
12	POLR2A	chr12:104358262-104360391	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr12:104358049-104358863	GM12892	blood:	n/a	n/a
14	POLR2A	chr12:104358282-104358509	HepG2	liver:	n/a	n/a
15	POLR2A	chr12:104358136-104360479	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr12:104358192-104360355	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:104358175-104358559	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:104358049..104359986-chr12:104530882..104532737,3	K562	blood:
2	chr12:104356512..104358461-chr12:104416021..104418355,2	K562	blood:
3	chr12:104323659..104328405-chr12:104357607..104360751,5	MCF-7	breast:
4	chr12:104357292..104359018-chr12:104494120..104496296,2	MCF-7	breast:
5	chr12:104357850..104359549-chr12:104531019..104533949,2	K562	blood:
6	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
7	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
8	chr12:104328917..104332179-chr12:104357230..104361045,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf73-2	chr12:104357568-104359481	NONHSAT030401

No data

Variant related genes	Relation type
TDG	TF binding region
ENSG00000265072	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000214198	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[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254063	0.82[EUR][1000 genomes]
rs2254064	1.00[YRI][hapmap];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[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583260	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583261	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2583263	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583277	0.83[EUR][1000 genomes]
rs2629768	1.00[CEU][hapmap];1.00[YRI][hapmap];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[CEU][hapmap];1.00[YRI][hapmap];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[CEU][hapmap];1.00[YRI][hapmap];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[CEU][hapmap];1.00[YRI][hapmap];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]
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[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs796736	1.00[AFR][1000 genomes];1.00[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
rs322107	KRTHB5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104351600-104358400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:104351600-104358400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:104352000-104358400	Weak transcription	Primary B cells from cord blood	blood
4	chr12:104357000-104358400	Enhancers	Brain Angular Gyrus	brain
5	chr12:104357400-104358400	Enhancers	Fetal Lung	lung
6	chr12:104357600-104358600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:104357600-104358600	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:104357600-104358600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:104357600-104359000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:104357800-104358400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:104357800-104358400	Enhancers	Colon Smooth Muscle	Colon
12	chr12:104357800-104358400	Enhancers	Fetal Brain Male	brain
13	chr12:104357800-104358400	Enhancers	Fetal Kidney	kidney
14	chr12:104357800-104358400	Enhancers	Psoas Muscle	Psoas
15	chr12:104357800-104358400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr12:104357800-104358600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr12:104357800-104358600	Flanking Active TSS	K562	blood
18	chr12:104357800-104358800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:104357800-104358800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:104357800-104358800	Flanking Active TSS	NHLF	lung
21	chr12:104357800-104359400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:104357800-104361200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:104358000-104358400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr12:104358000-104358400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:104358000-104358400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:104358000-104358400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr12:104358000-104358400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:104358000-104358400	Enhancers	Liver	Liver
29	chr12:104358000-104358400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:104358000-104358400	Enhancers	Esophagus	oesophagus
31	chr12:104358000-104358400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:104358000-104358400	Enhancers	Gastric	stomach
33	chr12:104358000-104358400	Enhancers	Lung	lung
34	chr12:104358000-104358400	Enhancers	Ovary	ovary
35	chr12:104358000-104358400	Enhancers	Thymus	Thymus
36	chr12:104358000-104358600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:104358000-104358600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:104358000-104358600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:104358000-104358600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:104358000-104358600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:104358000-104358600	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr12:104358000-104358600	Enhancers	Fetal Thymus	thymus
43	chr12:104358000-104358600	Enhancers	Right Atrium	heart
44	chr12:104358000-104358600	Enhancers	Spleen	Spleen
45	chr12:104358000-104358600	Flanking Active TSS	GM12878-XiMat	blood
46	chr12:104358000-104358600	Flanking Active TSS	HSMMtube	muscle
47	chr12:104358000-104358600	Flanking Active TSS	NHDF-Ad	bronchial
48	chr12:104358000-104358800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:104358000-104358800	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:104358000-104358800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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