Variant report

Variant	rs35879815
Chromosome Location	chr12:104459905-104459906
allele	G/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	MXI1	chr12:104457085-104460152	SK-N-SH	brain:	n/a	chr12:104458234-104458243
2	MAZ	chr12:104457547-104459919	IMR90	lung:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104458613..104460615-chr12:104466800..104468593,2	K562	blood:
2	chr12:104458967..104460937-chr12:104609571..104611178,2	K562	blood:

Variant related genes	Relation type
GLT8D2	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10861157	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11111888	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11111892	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11111900	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12580532	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12580691	0.82[ASN][1000 genomes]
rs1485591	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2272477	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34011860	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34071758	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35223676	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3763999	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4964531	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6539123	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7133289	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7958015	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7979123	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][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	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104457200-104460000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:104457400-104460000	Active TSS	Right Atrium	heart
3	chr12:104457400-104460400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:104457800-104460000	Active TSS	Fetal Muscle Trunk	muscle
5	chr12:104457800-104460000	Active TSS	Right Ventricle	heart
6	chr12:104458800-104460000	Flanking Active TSS	Fetal Brain Female	brain
7	chr12:104458800-104460000	Flanking Active TSS	HUVEC	blood vessel
8	chr12:104459000-104460000	Flanking Active TSS	Dnd41	blood
9	chr12:104459000-104460000	Flanking Active TSS	NH-A	brain
10	chr12:104459000-104460000	Flanking Active TSS	NHEK	skin
11	chr12:104459000-104460200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:104459200-104460000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:104459200-104460000	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr12:104459200-104460000	Flanking Active TSS	Colonic Mucosa	Colon
15	chr12:104459200-104460000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr12:104459200-104460000	Flanking Active TSS	Fetal Heart	heart
17	chr12:104459200-104460000	Flanking Active TSS	Fetal Stomach	stomach
18	chr12:104459200-104460000	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr12:104459200-104460000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr12:104459200-104460200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:104459200-104463600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:104459200-104480600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:104459200-104480600	Weak transcription	Esophagus	oesophagus
24	chr12:104459400-104460000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr12:104459400-104460000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr12:104459400-104460000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:104459400-104460000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:104459400-104460000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:104459400-104460000	Enhancers	Aorta	Aorta
30	chr12:104459400-104460000	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:104459400-104460000	Enhancers	Fetal Thymus	thymus
32	chr12:104459400-104460000	Enhancers	Stomach Mucosa	stomach
33	chr12:104459400-104460000	Flanking Active TSS	HSMM	muscle
34	chr12:104459400-104460000	Flanking Active TSS	Osteobl	bone
35	chr12:104459400-104460200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:104459400-104460200	Enhancers	Brain Substantia Nigra	brain
37	chr12:104459400-104460600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:104459400-104460600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:104459400-104461800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:104459400-104464000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:104459400-104476600	Weak transcription	Fetal Kidney	kidney
42	chr12:104459600-104460000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr12:104459600-104460000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr12:104459600-104460000	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr12:104459600-104460000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:104459600-104460000	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr12:104459600-104460000	Enhancers	Duodenum Mucosa	Duodenum
48	chr12:104459600-104460000	Genic enhancers	Fetal Lung	lung
49	chr12:104459600-104460000	Enhancers	Hela-S3	cervix
50	chr12:104459600-104460000	Enhancers	HepG2	liver

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