Variant report

Variant	rs2900095
Chromosome Location	chr5:114792198-114792199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10035674	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10037534	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478233	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478234	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153505	0.81[EUR][1000 genomes]
rs13189995	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17137584	1.00[CHD][hapmap]
rs17137847	0.81[EUR][1000 genomes]
rs1833716	0.81[EUR][1000 genomes]
rs269522	0.84[EUR][1000 genomes]
rs28650823	0.81[EUR][1000 genomes]
rs56402249	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703101	1.00[CHD][hapmap]
rs7735894	0.83[EUR][1000 genomes];1.00[ASN][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	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
rs2900095	COMMD10	cis	parietal	SCAN
rs2900095	AP3S1	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114785400-114794600	Enhancers	Fetal Intestine Small	intestine
2	chr5:114785600-114796200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:114786000-114794000	Enhancers	Duodenum Mucosa	Duodenum
4	chr5:114786000-114794400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr5:114786000-114795800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:114786000-114796200	Enhancers	Fetal Intestine Large	intestine
7	chr5:114786400-114795600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:114786600-114793400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:114786600-114795200	Weak transcription	HSMMtube	muscle
10	chr5:114786800-114792600	Weak transcription	GM12878-XiMat	blood
11	chr5:114786800-114793600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:114786800-114794000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:114786800-114794800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:114786800-114796000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:114786800-114796400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:114787000-114799400	Weak transcription	Fetal Lung	lung
17	chr5:114787600-114792600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:114787800-114792200	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:114787800-114793400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:114788600-114793400	Weak transcription	Fetal Kidney	kidney
21	chr5:114789400-114792400	Weak transcription	Colonic Mucosa	Colon
22	chr5:114789400-114793800	Weak transcription	Gastric	stomach
23	chr5:114789600-114792400	Weak transcription	Placenta	Placenta
24	chr5:114790200-114793000	Enhancers	Small Intestine	intestine
25	chr5:114790200-114794400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:114790400-114792200	Enhancers	NHLF	lung
27	chr5:114790400-114792800	Enhancers	Brain Germinal Matrix	brain
28	chr5:114790400-114792800	Enhancers	Psoas Muscle	Psoas
29	chr5:114790400-114794400	Enhancers	Pancreas	Pancrea
30	chr5:114790400-114794400	Enhancers	Right Atrium	heart
31	chr5:114790400-114795400	Enhancers	Right Ventricle	heart
32	chr5:114790400-114795800	Enhancers	NHDF-Ad	bronchial
33	chr5:114790600-114794000	Enhancers	HSMM	muscle
34	chr5:114791000-114793800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr5:114791000-114795800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr5:114791200-114792200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:114791200-114792400	Weak transcription	Adipose Nuclei	Adipose
38	chr5:114791200-114793400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr5:114791400-114792400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:114791400-114793200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:114791400-114793200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:114791400-114793400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:114791400-114795000	Weak transcription	NHEK	skin
44	chr5:114791600-114792800	Weak transcription	Stomach Mucosa	stomach
45	chr5:114791600-114793200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:114791600-114793200	Weak transcription	Brain Substantia Nigra	brain
47	chr5:114791600-114793400	Weak transcription	Left Ventricle	heart
48	chr5:114791600-114793600	Weak transcription	Osteobl	bone
49	chr5:114791600-114794400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:114791600-114794800	Weak transcription	NH-A	brain

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