Variant report

Variant	rs12429252
Chromosome Location	chr13:30916263-30916264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30914354..30916589-chr2:38153582..38155148,2	MCF-7	breast:
2	chr13:30916021..30918034-chr13:30924838..30926822,2	MCF-7	breast:
3	chr13:30914887..30916823-chr13:31040632..31043007,2	K562	blood:

Variant related genes	Relation type
ENSG00000189403	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10488670	1.00[CEU][hapmap]
rs10492464	1.00[CEU][hapmap]
rs11147417	0.87[AMR][1000 genomes]
rs11147418	0.82[AMR][1000 genomes]
rs12584523	1.00[CEU][hapmap]
rs17633138	1.00[CEU][hapmap]
rs17633357	1.00[CEU][hapmap]
rs17689746	1.00[CEU][hapmap]
rs57190526	0.82[AMR][1000 genomes]
rs614986	1.00[CEU][hapmap]
rs61948026	0.82[AMR][1000 genomes]
rs739501	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs766994	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs9550556	0.82[AMR][1000 genomes]
rs9550558	0.82[AMR][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	nsv530602	chr13:30911025-31404272	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv455853	chr13:30911531-30951514	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv561394	chr13:30911531-30951514	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Fractional exhaled nitric oxide (childhood)	24315451	GWAS catalog

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30909000-30919800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr13:30909800-30919000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr13:30909800-30919400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr13:30910000-30919000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:30910000-30920600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:30910600-30916400	Enhancers	Hela-S3	cervix
7	chr13:30910800-30919200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr13:30911000-30917400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr13:30911000-30919000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr13:30911200-30919600	Weak transcription	Primary B cells from cord blood	blood
11	chr13:30911400-30917600	Enhancers	Colon Smooth Muscle	Colon
12	chr13:30911600-30917400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:30912000-30917000	Enhancers	Fetal Heart	heart
14	chr13:30912000-30918400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr13:30912200-30917000	Enhancers	NH-A	brain
16	chr13:30912400-30916800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:30913400-30916800	Enhancers	Left Ventricle	heart
18	chr13:30913600-30917000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:30913600-30917000	Enhancers	Adipose Nuclei	Adipose
20	chr13:30913600-30917000	Enhancers	Fetal Muscle Leg	muscle
21	chr13:30913600-30917000	Enhancers	Fetal Stomach	stomach
22	chr13:30913600-30917000	Enhancers	HSMM	muscle
23	chr13:30913800-30916800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr13:30913800-30918600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr13:30913800-30919200	Weak transcription	Spleen	Spleen
26	chr13:30914000-30916800	Genic enhancers	Fetal Thymus	thymus
27	chr13:30914000-30917000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:30914000-30917000	Enhancers	Aorta	Aorta
29	chr13:30914000-30917200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr13:30914000-30917200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:30914000-30917200	Enhancers	Liver	Liver
32	chr13:30914200-30916600	Enhancers	NHEK	skin
33	chr13:30914200-30917200	Enhancers	Dnd41	blood
34	chr13:30914400-30916800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr13:30914600-30916400	Weak transcription	Brain Angular Gyrus	brain
36	chr13:30914800-30916400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:30914800-30916400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:30914800-30917800	Weak transcription	Pancreas	Pancrea
39	chr13:30914800-30918400	Weak transcription	Lung	lung
40	chr13:30915000-30916400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr13:30915400-30916400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr13:30915400-30916600	Enhancers	Brain Anterior Caudate	brain
43	chr13:30915400-30916600	Enhancers	K562	blood
44	chr13:30915400-30916600	Enhancers	Osteobl	bone
45	chr13:30915400-30916800	Weak transcription	Colonic Mucosa	Colon
46	chr13:30915400-30917000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:30915400-30917000	Enhancers	Psoas Muscle	Psoas
48	chr13:30915400-30917000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr13:30915400-30917000	Enhancers	HSMMtube	muscle
50	chr13:30915400-30920000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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