Variant report

Variant	rs3787576
Chromosome Location	chr21:16344187-16344188
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10482863	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12481775	0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs17241025	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2228508	0.90[YRI][hapmap]
rs35324633	0.88[AFR][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	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3787576	NRIP1	cis	brain	BrainEAC
rs3787576	NRIP1	cis	cerebellar cortex	BrainEAC

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16336400-16351600	Weak transcription	Fetal Heart	heart
2	chr21:16338200-16353600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:16340200-16349200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:16340400-16345000	Weak transcription	Fetal Intestine Small	intestine
5	chr21:16340400-16345200	Weak transcription	Brain Germinal Matrix	brain
6	chr21:16340400-16351600	Weak transcription	Fetal Lung	lung
7	chr21:16340400-16359400	Weak transcription	HSMMtube	muscle
8	chr21:16340600-16345600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr21:16340600-16347000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr21:16340600-16347800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr21:16340600-16349000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr21:16340600-16350200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr21:16340600-16350200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr21:16340600-16350200	Weak transcription	Small Intestine	intestine
15	chr21:16340600-16351800	Weak transcription	Brain Substantia Nigra	brain
16	chr21:16340600-16353600	Weak transcription	Spleen	Spleen
17	chr21:16340600-16354600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr21:16340600-16359000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:16340600-16359400	Weak transcription	Placenta	Placenta
20	chr21:16340600-16360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:16340600-16361200	Weak transcription	Brain Angular Gyrus	brain
22	chr21:16340600-16361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr21:16340600-16361400	Weak transcription	Fetal Stomach	stomach
24	chr21:16340600-16367400	Weak transcription	NHDF-Ad	bronchial
25	chr21:16340600-16372800	Weak transcription	GM12878-XiMat	blood
26	chr21:16340600-16374200	Weak transcription	Aorta	Aorta
27	chr21:16340600-16375800	Weak transcription	Right Ventricle	heart
28	chr21:16340800-16344400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:16340800-16344800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr21:16340800-16345000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr21:16340800-16345600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr21:16340800-16346400	Weak transcription	HMEC	breast
33	chr21:16340800-16347000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr21:16340800-16347000	Weak transcription	Fetal Muscle Leg	muscle
35	chr21:16340800-16347000	Weak transcription	NH-A	brain
36	chr21:16340800-16347200	Weak transcription	Ovary	ovary
37	chr21:16340800-16347200	Weak transcription	HSMM	muscle
38	chr21:16340800-16347400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr21:16340800-16348800	Weak transcription	Colon Smooth Muscle	Colon
40	chr21:16340800-16349000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr21:16340800-16349200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr21:16340800-16349400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr21:16340800-16350200	Weak transcription	Left Ventricle	heart
44	chr21:16340800-16351600	Weak transcription	Brain Hippocampus Middle	brain
45	chr21:16340800-16351600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr21:16340800-16352000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr21:16340800-16355200	Weak transcription	Primary B cells from cord blood	blood
48	chr21:16340800-16356000	Weak transcription	Primary T cells from cord blood	blood
49	chr21:16340800-16356600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr21:16340800-16358800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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