Variant report

Variant	rs12738654
Chromosome Location	chr1:93425165-93425166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93425058..93429733-chr1:93431759..93435608,8	K562	blood:
2	chr1:93409434..93411659-chr1:93423338..93426325,2	K562	blood:

Variant related genes	Relation type
ENSG00000252121	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10874745	0.83[EUR][1000 genomes]
rs11164825	0.83[EUR][1000 genomes]
rs11582791	0.86[EUR][1000 genomes]
rs11586089	0.91[EUR][1000 genomes]
rs11586570	0.84[EUR][1000 genomes]
rs12062315	0.84[EUR][1000 genomes]
rs12726286	0.84[EUR][1000 genomes]
rs12746956	0.84[EUR][1000 genomes]
rs12750269	0.84[EUR][1000 genomes]
rs1854797	0.82[EUR][1000 genomes]
rs34041593	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34098754	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34244251	0.82[EUR][1000 genomes]
rs35031391	0.82[EUR][1000 genomes]
rs35051335	0.81[EUR][1000 genomes]
rs35183060	0.87[EUR][1000 genomes]
rs58270016	0.81[EUR][1000 genomes]
rs66525381	0.82[EUR][1000 genomes]
rs71652510	0.90[EUR][1000 genomes]
rs7514280	0.81[EUR][1000 genomes]
rs7521417	0.91[EUR][1000 genomes]
rs7554594	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12738654	FAM69A	cis	Artery Tibial	GTEx

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93409600-93426000	Weak transcription	Lung	lung
2	chr1:93410600-93425600	Weak transcription	Aorta	Aorta
3	chr1:93410600-93425800	Weak transcription	Right Atrium	heart
4	chr1:93410600-93426000	Weak transcription	Left Ventricle	heart
5	chr1:93411000-93425800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:93413600-93425600	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:93415200-93425600	Enhancers	Primary T cells from cord blood	blood
8	chr1:93415200-93425600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:93415200-93425600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:93415200-93425600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:93417000-93425400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:93417000-93425600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:93417000-93425600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:93417000-93425800	Weak transcription	Right Ventricle	heart
15	chr1:93417200-93425800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:93417600-93425600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:93417600-93425600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:93417800-93425600	Weak transcription	NHLF	lung
19	chr1:93418000-93425600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:93418200-93425800	Weak transcription	Psoas Muscle	Psoas
21	chr1:93419200-93425600	Enhancers	Primary B cells from cord blood	blood
22	chr1:93419400-93425600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:93420000-93425600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:93421200-93425600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:93421600-93425600	Enhancers	Dnd41	blood
26	chr1:93422000-93425200	Enhancers	Liver	Liver
27	chr1:93422000-93425800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:93422400-93425600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:93422400-93425600	Weak transcription	Fetal Brain Male	brain
30	chr1:93422400-93425600	Enhancers	Fetal Heart	heart
31	chr1:93422400-93425600	Weak transcription	Fetal Kidney	kidney
32	chr1:93422800-93425600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr1:93422800-93425600	Weak transcription	Adipose Nuclei	Adipose
34	chr1:93422800-93425600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:93422800-93425800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:93423200-93425400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr1:93423200-93425600	Weak transcription	Fetal Lung	lung
38	chr1:93423200-93425600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:93423200-93425600	Weak transcription	Small Intestine	intestine
40	chr1:93423200-93425600	Weak transcription	Stomach Mucosa	stomach
41	chr1:93423200-93425600	Weak transcription	HSMMtube	muscle
42	chr1:93423200-93425800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:93423200-93425800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:93423200-93426200	Weak transcription	Gastric	stomach
45	chr1:93423200-93426200	Weak transcription	Spleen	Spleen
46	chr1:93423400-93425400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:93423800-93425800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:93424000-93425200	Enhancers	Brain Angular Gyrus	brain
49	chr1:93424000-93425400	Weak transcription	Fetal Thymus	thymus
50	chr1:93424000-93425600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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