Variant report

Variant	rs975257
Chromosome Location	chr6:114200292-114200293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114200223..114202562-chr6:114240736..114243361,2	K562	blood:

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

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

rs_ID	r²[population]
rs11153451	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12210945	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2146178	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2348779	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4945978	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4945980	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs638614	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6920267	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6934011	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7771208	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs922329	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9372383	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9384885	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9387181	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9400677	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9400679	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9488271	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114183800-114200400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:114194400-114202000	Weak transcription	Ovary	ovary
3	chr6:114194600-114200400	Weak transcription	Fetal Lung	lung
4	chr6:114194600-114202000	Weak transcription	Lung	lung
5	chr6:114194800-114200600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:114195000-114200400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:114195000-114200400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:114195000-114200400	Weak transcription	Liver	Liver
9	chr6:114195000-114200400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:114195400-114200400	Weak transcription	Fetal Intestine Large	intestine
11	chr6:114196800-114200400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:114196800-114200400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:114196800-114200400	Weak transcription	HepG2	liver
14	chr6:114197000-114200400	Weak transcription	NH-A	brain
15	chr6:114197200-114200400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:114197200-114200400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:114198600-114200400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr6:114199400-114200400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:114199400-114200800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:114199600-114200800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:114200000-114200400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:114200000-114201000	Enhancers	Osteobl	bone
23	chr6:114200000-114203800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr6:114200200-114200400	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:114200200-114200400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr6:114200200-114200400	Enhancers	NHDF-Ad	bronchial
27	chr6:114200200-114200600	Enhancers	Stomach Mucosa	stomach
28	chr6:114200200-114200600	Enhancers	HSMMtube	muscle
29	chr6:114200200-114200600	Flanking Active TSS	HUVEC	blood vessel
30	chr6:114200200-114200800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:114200200-114200800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:114200200-114200800	Enhancers	HSMM	muscle
33	chr6:114200200-114201000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:114200200-114201000	Enhancers	Fetal Kidney	kidney
35	chr6:114200200-114201200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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