Variant report

Variant	rs9488271
Chromosome Location	chr6:114196015-114196016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11153451	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12210945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2146178	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2348779	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4945978	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4945980	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs638614	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6920267	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6934011	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7771208	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs922329	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9372383	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9384885	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9387181	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9400677	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9400679	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs975257	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114181000-114200200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:114183200-114196200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:114183600-114196400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:114183800-114196200	Weak transcription	NHLF	lung
5	chr6:114183800-114200200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:114183800-114200400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:114184000-114200200	Weak transcription	Fetal Kidney	kidney
8	chr6:114184200-114196400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:114184400-114196200	Weak transcription	NH-A	brain
10	chr6:114192000-114196200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:114193400-114196200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:114194400-114202000	Weak transcription	Ovary	ovary
13	chr6:114194600-114196200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:114194600-114200400	Weak transcription	Fetal Lung	lung
15	chr6:114194600-114202000	Weak transcription	Lung	lung
16	chr6:114194800-114196400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:114194800-114199400	Weak transcription	HUVEC	blood vessel
18	chr6:114194800-114200600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:114195000-114196200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:114195000-114196200	Enhancers	Duodenum Mucosa	Duodenum
21	chr6:114195000-114196200	Enhancers	Fetal Intestine Small	intestine
22	chr6:114195000-114196800	Enhancers	HepG2	liver
23	chr6:114195000-114200400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:114195000-114200400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:114195000-114200400	Weak transcription	Liver	Liver
26	chr6:114195000-114200400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr6:114195200-114200000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:114195400-114200200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:114195400-114200400	Weak transcription	Fetal Intestine Large	intestine
30	chr6:114195600-114197200	Enhancers	A549	lung
31	chr6:114195800-114196400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:114195800-114197000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:114196000-114196400	Enhancers	HSMMtube	muscle
34	chr6:114196000-114197000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr6:114196000-114197000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:114196000-114197000	Enhancers	HSMM	muscle
37	chr6:114196000-114197000	Enhancers	Osteobl	bone
38	chr6:114196000-114198200	Enhancers	NHDF-Ad	bronchial

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