Variant report

Variant	rs2081130
Chromosome Location	chr5:108123818-108123819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10038669	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10040696	0.83[ASN][1000 genomes]
rs10044305	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10045220	0.81[ASN][1000 genomes]
rs10060694	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10062204	0.88[EUR][1000 genomes]
rs10063167	0.86[EUR][1000 genomes]
rs10073668	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10079165	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10477431	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13180513	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2081126	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2081129	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28637651	0.90[EUR][1000 genomes]
rs28651469	0.80[EUR][1000 genomes]
rs2900035	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34125469	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6594338	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6594340	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6874229	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6875320	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6880284	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6889550	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6891194	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6895027	0.90[EUR][1000 genomes]
rs7700630	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7709267	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7710482	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7712834	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7712956	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7725391	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7726708	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7731891	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7735235	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9326747	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9326748	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9885168	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108090200-108127600	Weak transcription	NH-A	brain
2	chr5:108096400-108134000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:108098400-108128000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:108101600-108127600	Weak transcription	Osteobl	bone
5	chr5:108105400-108130600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:108105400-108133200	Weak transcription	NHDF-Ad	bronchial
7	chr5:108112600-108137200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:108117800-108138200	Weak transcription	Liver	Liver
9	chr5:108118000-108132800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:108118200-108126600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:108118200-108136800	Weak transcription	NHLF	lung
12	chr5:108119400-108124000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:108120000-108124000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:108120000-108136800	Weak transcription	A549	lung
15	chr5:108120200-108124000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:108120200-108125600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:108120200-108137600	Weak transcription	Spleen	Spleen
18	chr5:108120200-108142200	Weak transcription	Aorta	Aorta
19	chr5:108120600-108146400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:108120800-108146400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:108121000-108138600	Weak transcription	Fetal Kidney	kidney
22	chr5:108121000-108139000	Weak transcription	Primary T cells from cord blood	blood
23	chr5:108121000-108139200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:108121200-108124400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:108121200-108125800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:108121200-108126600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:108121200-108132200	Weak transcription	Fetal Lung	lung
28	chr5:108121200-108132800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:108121600-108124400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:108121600-108124600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:108121800-108124400	Enhancers	Fetal Muscle Leg	muscle
32	chr5:108121800-108137200	Weak transcription	HSMMtube	muscle
33	chr5:108122200-108124200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:108122400-108124200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:108122400-108124200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:108122600-108124000	ZNF genes & repeats	Dnd41	blood
37	chr5:108122600-108124200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:108122600-108124200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr5:108122600-108124200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:108122600-108124200	ZNF genes & repeats	Brain Germinal Matrix	brain
41	chr5:108122600-108124200	ZNF genes & repeats	Fetal Stomach	stomach
42	chr5:108122600-108124400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:108122600-108124400	ZNF genes & repeats	Fetal Brain Female	brain
44	chr5:108122800-108125000	Enhancers	Brain Substantia Nigra	brain
45	chr5:108123000-108124200	Weak transcription	Right Atrium	heart
46	chr5:108123000-108138200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:108123200-108124000	Enhancers	Fetal Muscle Trunk	muscle
48	chr5:108123200-108124000	ZNF genes & repeats	GM12878-XiMat	blood
49	chr5:108123200-108124200	Strong transcription	Fetal Intestine Small	intestine
50	chr5:108123200-108124200	Strong transcription	Thymus	Thymus

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