Variant report

Variant	rs4832199
Chromosome Location	chr2:86005932-86005933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86003504..86005582-chr2:86005800..86007921,2	K562	blood:
2	chr2:86005755..86007502-chr2:86009550..86012343,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1055770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[LWK][hapmap];0.93[MEX][hapmap];0.86[MKK][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11679995	0.83[ASN][1000 genomes]
rs11691015	0.83[ASN][1000 genomes]
rs13001375	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13035450	1.00[CHB][hapmap];0.91[YRI][hapmap];0.83[ASN][1000 genomes]
rs13388951	0.83[ASN][1000 genomes]
rs34027204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34117913	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34284678	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35074676	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832012	1.00[CHB][hapmap]
rs4832013	0.83[CHD][hapmap]
rs4832014	0.83[ASN][1000 genomes]
rs4832194	1.00[CHB][hapmap]
rs4832198	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs4832201	0.83[ASN][1000 genomes]
rs55974755	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71392945	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736991	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs748064	0.83[ASN][1000 genomes]
rs750442	0.95[CEU][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs750443	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7576412	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609043	0.83[ASN][1000 genomes]
rs7609084	0.83[ASN][1000 genomes]
rs7609441	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv535806	chr2:85990408-86007918	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4832199	ELMOD3	cis	cerebellum	SCAN
rs4832199	RNF103	cis	parietal	SCAN
rs4832199	CYP4A22	trans	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86000200-86010400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86000400-86006000	Enhancers	Fetal Heart	heart
3	chr2:86000400-86008200	Enhancers	Psoas Muscle	Psoas
4	chr2:86000600-86009200	Enhancers	Right Atrium	heart
5	chr2:86001000-86006800	Weak transcription	Stomach Mucosa	stomach
6	chr2:86001000-86008200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr2:86001200-86012800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:86001400-86023000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:86001600-86006600	Enhancers	Left Ventricle	heart
10	chr2:86001600-86011800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:86001600-86020000	Weak transcription	Fetal Brain Female	brain
12	chr2:86001600-86023000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:86001800-86006000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:86001800-86014200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:86002000-86006000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:86002200-86006000	Weak transcription	NHDF-Ad	bronchial
17	chr2:86002200-86008200	Genic enhancers	Stomach Smooth Muscle	stomach
18	chr2:86002200-86012600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:86002200-86015800	Weak transcription	A549	lung
20	chr2:86002400-86011200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:86002600-86007600	Strong transcription	Aorta	Aorta
22	chr2:86002600-86007600	Enhancers	Liver	Liver
23	chr2:86002800-86006000	Genic enhancers	Fetal Muscle Leg	muscle
24	chr2:86002800-86008200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:86002800-86011800	Weak transcription	HSMMtube	muscle
26	chr2:86003000-86007200	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:86003000-86007600	Enhancers	Ovary	ovary
28	chr2:86003000-86007800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:86003200-86007800	Genic enhancers	Lung	lung
30	chr2:86003400-86008600	Genic enhancers	Fetal Lung	lung
31	chr2:86003600-86007600	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:86003600-86008400	Genic enhancers	HSMM	muscle
33	chr2:86003800-86006000	Enhancers	Spleen	Spleen
34	chr2:86004000-86006600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:86004000-86014000	Weak transcription	Gastric	stomach
36	chr2:86004200-86006800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:86004400-86007000	Enhancers	Brain Germinal Matrix	brain
38	chr2:86004600-86006400	Enhancers	Brain Substantia Nigra	brain
39	chr2:86004600-86006600	Enhancers	Brain Hippocampus Middle	brain
40	chr2:86004600-86007000	Enhancers	Brain Angular Gyrus	brain
41	chr2:86004600-86007000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr2:86004800-86007600	Enhancers	Placenta	Placenta
43	chr2:86004800-86008000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr2:86004800-86011000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:86004800-86017200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:86005000-86006000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:86005000-86006000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:86005000-86008600	Enhancers	Fetal Brain Male	brain
49	chr2:86005200-86006600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:86005200-86006800	Enhancers	Skeletal Muscle Female	skeletal muscle

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