Variant report

Variant	rs4325390
Chromosome Location	chr12:10378167-10378168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr12:10378082-10378316	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:10378048-10381250	IMR90	lung:	n/a	n/a
3	POLR2A	chr12:10378041-10378317	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:10378078-10378321	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10364498..10366663-chr12:10376957..10378491,2	K562	blood:
2	chr12:10363710..10369534-chr12:10376619..10381190,6	K562	blood:

Variant related genes	Relation type
KLRD1	TF binding region
ENSG00000255958	Chromatin interaction
ENSG00000139112	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10734821	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10743874	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10743875	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10845099	0.85[AMR][1000 genomes]
rs11053709	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2417580	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4254156	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4764331	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7966224	0.85[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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10366800-10386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:10368400-10378400	Weak transcription	Fetal Heart	heart
3	chr12:10368400-10378600	Weak transcription	Stomach Mucosa	stomach
4	chr12:10368400-10380200	Weak transcription	GM12878-XiMat	blood
5	chr12:10368400-10380400	Weak transcription	Dnd41	blood
6	chr12:10372800-10379600	Weak transcription	Right Atrium	heart
7	chr12:10373200-10378400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:10373400-10382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:10374400-10378800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:10375200-10378400	Weak transcription	K562	blood
11	chr12:10375200-10379000	Weak transcription	Hela-S3	cervix
12	chr12:10375200-10379600	Weak transcription	Thymus	Thymus
13	chr12:10375200-10380000	Weak transcription	Small Intestine	intestine
14	chr12:10375400-10379600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:10375400-10380600	Weak transcription	Fetal Lung	lung
16	chr12:10375600-10380400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:10376000-10379600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:10376400-10378200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:10376400-10378200	Weak transcription	Esophagus	oesophagus
20	chr12:10376400-10378600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:10376400-10380200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:10376400-10380200	Weak transcription	Gastric	stomach
23	chr12:10376400-10380400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:10376400-10380400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:10376400-10386600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:10376400-10386600	Weak transcription	Brain Substantia Nigra	brain
27	chr12:10376400-10388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:10376400-10395000	Weak transcription	Pancreas	Pancrea
29	chr12:10376400-10397600	Weak transcription	Aorta	Aorta
30	chr12:10376600-10378400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:10376600-10378400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:10376600-10378800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr12:10376600-10378800	Weak transcription	Brain Germinal Matrix	brain
34	chr12:10376600-10379200	Weak transcription	HUVEC	blood vessel
35	chr12:10376600-10380000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:10376600-10380400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:10376600-10382400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:10376600-10385600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:10376800-10378400	Weak transcription	NHLF	lung
40	chr12:10376800-10378600	Weak transcription	A549	lung
41	chr12:10376800-10379000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:10376800-10379200	Weak transcription	Fetal Brain Male	brain
43	chr12:10376800-10380000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:10376800-10380400	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:10376800-10385800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:10377000-10378600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:10377000-10378600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:10377000-10378600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:10377000-10378600	Weak transcription	Colonic Mucosa	Colon
50	chr12:10377000-10378600	Weak transcription	Fetal Kidney	kidney

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