Variant report

Variant	rs12547969
Chromosome Location	chr8:95798511-95798512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95795234..95797396-chr8:95798453..95800886,2	K562	blood:
2	chr8:95650771..95652758-chr8:95797779..95799300,2	MCF-7	breast:
3	chr8:95796835..95798822-chr8:95804298..95807076,2	K562	blood:

Variant related genes	Relation type
ENSG00000261437	Chromatin interaction
ENSG00000254307	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10095896	0.85[EUR][1000 genomes]
rs12546825	0.83[EUR][1000 genomes]
rs12547930	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13250360	0.81[ASN][1000 genomes]
rs13258377	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13259064	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34759911	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35184808	0.85[EUR][1000 genomes]
rs4644204	0.81[ASN][1000 genomes]
rs4735322	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4735324	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66831269	0.85[EUR][1000 genomes]
rs7813205	0.84[EUR][1000 genomes]
rs7824039	0.85[EUR][1000 genomes]
rs7826057	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7844431	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3481424	chr8:95796980-95798829	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv3481425	chr8:95797151-95798729	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95733000-95803800	Weak transcription	Psoas Muscle	Psoas
2	chr8:95733000-95805200	Weak transcription	Colonic Mucosa	Colon
3	chr8:95733200-95805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:95733800-95806400	Weak transcription	Fetal Brain Male	brain
6	chr8:95740800-95799000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:95752400-95809200	Weak transcription	NHLF	lung
8	chr8:95752600-95805600	Weak transcription	NHEK	skin
9	chr8:95761800-95803600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:95773200-95804800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:95773600-95809400	Weak transcription	HSMMtube	muscle
12	chr8:95773800-95802600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:95774800-95799800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:95774800-95803200	Weak transcription	Fetal Heart	heart
15	chr8:95776200-95803800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:95777400-95804000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:95778600-95802600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:95780800-95808000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:95781200-95800800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:95784200-95801200	Weak transcription	Brain Germinal Matrix	brain
21	chr8:95785000-95799400	Weak transcription	Brain Substantia Nigra	brain
22	chr8:95785000-95802400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:95785000-95803800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:95785000-95804600	Weak transcription	Right Ventricle	heart
25	chr8:95785000-95809800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:95785200-95803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:95785200-95805000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:95785800-95809200	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:95786200-95803800	Weak transcription	Small Intestine	intestine
30	chr8:95786200-95811600	Weak transcription	Spleen	Spleen
31	chr8:95786200-95812800	Weak transcription	Gastric	stomach
32	chr8:95786400-95809600	Weak transcription	Lung	lung
33	chr8:95786600-95802400	Weak transcription	Esophagus	oesophagus
34	chr8:95786600-95807800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:95789200-95804400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:95789400-95799200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr8:95789600-95804400	Strong transcription	Liver	Liver
38	chr8:95791200-95809600	Weak transcription	Brain Angular Gyrus	brain
39	chr8:95791400-95806600	Weak transcription	Aorta	Aorta
40	chr8:95791400-95809800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:95791400-95812400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:95791600-95809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:95791800-95800800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:95791800-95802400	Weak transcription	Pancreas	Pancrea
45	chr8:95792000-95799400	Weak transcription	Brain Anterior Caudate	brain
46	chr8:95792000-95811600	Weak transcription	Thymus	Thymus
47	chr8:95792200-95809800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:95793000-95804400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:95793400-95801600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:95793600-95799400	Strong transcription	Fetal Muscle Trunk	muscle

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