Variant report

Variant	rs12831479
Chromosome Location	chr12:4626131-4626132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12818485	1.00[ASN][1000 genomes]
rs16931447	1.00[ASN][1000 genomes]
rs2909376	1.00[ASN][1000 genomes]
rs2970831	1.00[ASN][1000 genomes]
rs2970832	1.00[ASN][1000 genomes]
rs2970833	1.00[ASN][1000 genomes]
rs35467270	0.89[EUR][1000 genomes]
rs35711623	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35924298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459907	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459908	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459911	1.00[ASN][1000 genomes]
rs7296957	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302664	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955370	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962626	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12831479	NRIP2	cis	parietal	SCAN
rs12831479	C12orf4	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4590800-4631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:4592400-4647200	Weak transcription	Esophagus	oesophagus
3	chr12:4593400-4628600	Weak transcription	Right Ventricle	heart
4	chr12:4594400-4646400	Weak transcription	NHLF	lung
5	chr12:4594800-4647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:4595400-4628600	Weak transcription	A549	lung
7	chr12:4596000-4647200	Weak transcription	Small Intestine	intestine
8	chr12:4596400-4629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:4596600-4633400	Weak transcription	Hela-S3	cervix
10	chr12:4596600-4640400	Weak transcription	Brain Angular Gyrus	brain
11	chr12:4598200-4647000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:4598400-4646800	Weak transcription	Fetal Brain Male	brain
13	chr12:4599200-4647200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:4606200-4647200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:4608200-4647200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:4608600-4628800	Weak transcription	Gastric	stomach
17	chr12:4608600-4629000	Weak transcription	Brain Germinal Matrix	brain
18	chr12:4608600-4629400	Weak transcription	Spleen	Spleen
19	chr12:4609000-4627200	Weak transcription	Lung	lung
20	chr12:4609000-4633400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:4609600-4640400	Weak transcription	Fetal Kidney	kidney
22	chr12:4609600-4642400	Weak transcription	Brain Substantia Nigra	brain
23	chr12:4609800-4640800	Weak transcription	Fetal Brain Female	brain
24	chr12:4610800-4647200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:4611200-4628800	Weak transcription	Fetal Stomach	stomach
26	chr12:4611200-4647000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:4611400-4627200	Weak transcription	Ovary	ovary
28	chr12:4611600-4628800	Weak transcription	Brain Anterior Caudate	brain
29	chr12:4612400-4627200	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:4612600-4629000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:4613400-4627200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:4613400-4628000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:4613600-4631000	Weak transcription	HUVEC	blood vessel
34	chr12:4614200-4628800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:4614400-4627000	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:4614400-4628600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:4614400-4628600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:4614800-4627200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:4615000-4626200	Weak transcription	NHDF-Ad	bronchial
40	chr12:4615000-4633200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:4615000-4642200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:4615000-4646400	Weak transcription	Fetal Heart	heart
43	chr12:4616200-4630600	Weak transcription	Fetal Lung	lung
44	chr12:4616400-4628800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:4616400-4629400	Weak transcription	Fetal Intestine Small	intestine
46	chr12:4616400-4634600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:4616400-4640600	Weak transcription	HSMMtube	muscle
48	chr12:4616400-4646000	Weak transcription	HepG2	liver
49	chr12:4616600-4627200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:4616600-4627200	Weak transcription	Osteobl	bone

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