Variant report

Variant	rs1371044
Chromosome Location	chr2:145695907-145695908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145691983..145697033-chr2:145697956..145702108,6	K562	blood:
2	chr2:145692796..145697382-chr2:145698219..145701649,5	K562	blood:
3	chr2:145692575..145694209-chr2:145694723..145697330,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10928235	0.90[EUR][1000 genomes]
rs11680871	0.92[EUR][1000 genomes]
rs11682379	0.93[EUR][1000 genomes]
rs11684042	0.93[EUR][1000 genomes]
rs1438898	0.88[EUR][1000 genomes]
rs17408036	0.90[AFR][1000 genomes]
rs17479393	0.89[EUR][1000 genomes]
rs55944332	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58117425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72853300	0.90[AFR][1000 genomes]
rs72854415	0.92[EUR][1000 genomes]
rs72854416	0.92[EUR][1000 genomes]
rs72854462	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1371044	KIAA0664L3	trans	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145692800-145696000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:145692800-145696000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:145692800-145696600	Enhancers	Fetal Kidney	kidney
4	chr2:145693800-145696000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:145694200-145696200	Enhancers	Aorta	Aorta
6	chr2:145694200-145696800	Enhancers	Colon Smooth Muscle	Colon
7	chr2:145694400-145696000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:145694400-145696400	Enhancers	Fetal Stomach	stomach
9	chr2:145694800-145696000	Enhancers	Brain Hippocampus Middle	brain
10	chr2:145695000-145696000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:145695000-145696000	Enhancers	Fetal Muscle Leg	muscle
12	chr2:145695000-145696400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr2:145695000-145696400	Enhancers	Stomach Smooth Muscle	stomach
14	chr2:145695000-145696600	Enhancers	Fetal Heart	heart
15	chr2:145695200-145696000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:145695200-145696000	Enhancers	Fetal Brain Male	brain
17	chr2:145695200-145696200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:145695200-145696200	Enhancers	Brain Angular Gyrus	brain
19	chr2:145695200-145696200	Enhancers	Right Atrium	heart
20	chr2:145695200-145696600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:145695200-145696600	Flanking Active TSS	NHDF-Ad	bronchial
22	chr2:145695200-145699600	Enhancers	Brain Substantia Nigra	brain
23	chr2:145695400-145696000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:145695400-145696000	Enhancers	Colonic Mucosa	Colon
25	chr2:145695400-145696200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:145695400-145697600	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:145695400-145697600	Enhancers	HUVEC	blood vessel
28	chr2:145695600-145696000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr2:145695600-145696000	Enhancers	K562	blood
30	chr2:145695600-145696000	Enhancers	NH-A	brain
31	chr2:145695600-145696000	Flanking Active TSS	NHLF	lung
32	chr2:145695600-145696200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:145695600-145696200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr2:145695600-145696200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:145695600-145696200	Flanking Active TSS	Osteobl	bone
36	chr2:145695600-145696600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:145695600-145696600	Flanking Active TSS	A549	lung
38	chr2:145695600-145696600	Enhancers	NHEK	skin
39	chr2:145695800-145696000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:145695800-145696000	Flanking Active TSS	Ovary	ovary
41	chr2:145695800-145696000	Active TSS	HSMMtube	muscle
42	chr2:145695800-145696200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:145695800-145696200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:145695800-145696200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:145695800-145696200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:145695800-145696200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:145695800-145696200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:145695800-145696200	Flanking Active TSS	Liver	Liver
49	chr2:145695800-145696200	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr2:145695800-145696200	Enhancers	Fetal Intestine Small	intestine

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