Variant report

Variant	rs34666525
Chromosome Location	chr1:94039825-94039826
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	chr1:94031670..94034762-chr1:94036485..94039973,4	K562	blood:
2	chr1:94037767..94040487-chr1:94043480..94046284,2	K562	blood:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11576435	1.00[ASN][1000 genomes]
rs11577352	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579004	1.00[ASN][1000 genomes]
rs11579685	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580965	1.00[ASN][1000 genomes]
rs11588860	1.00[ASN][1000 genomes]
rs12066343	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073093	1.00[ASN][1000 genomes]
rs12090736	1.00[ASN][1000 genomes]
rs12732557	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739747	1.00[ASN][1000 genomes]
rs12740779	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744941	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12757325	1.00[ASN][1000 genomes]
rs12760092	1.00[ASN][1000 genomes]
rs17110063	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110101	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110111	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110225	1.00[ASN][1000 genomes]
rs17110370	1.00[ASN][1000 genomes]
rs1877603	1.00[ASN][1000 genomes]
rs1877604	1.00[ASN][1000 genomes]
rs1891138	1.00[ASN][1000 genomes]
rs2818163	1.00[ASN][1000 genomes]
rs34183660	1.00[ASN][1000 genomes]
rs34423897	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34663884	1.00[ASN][1000 genomes]
rs34726063	1.00[ASN][1000 genomes]
rs35126293	1.00[ASN][1000 genomes]
rs35691338	1.00[ASN][1000 genomes]
rs35896714	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35972761	1.00[ASN][1000 genomes]
rs36115605	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3950119	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59996315	1.00[ASN][1000 genomes]
rs61780979	1.00[ASN][1000 genomes]
rs61780999	1.00[ASN][1000 genomes]
rs6660968	1.00[ASN][1000 genomes]
rs6666778	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677770	1.00[ASN][1000 genomes]
rs6679609	1.00[ASN][1000 genomes]
rs6683296	1.00[ASN][1000 genomes]
rs66966060	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67043929	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67300695	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67354439	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67511232	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71652539	1.00[ASN][1000 genomes]
rs72721041	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511890	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514579	0.82[EUR][1000 genomes]
rs7525880	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531106	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543098	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543734	0.97[EUR][1000 genomes]
rs7543763	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553185	1.00[ASN][1000 genomes]
rs7555302	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761802	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93995000-94045000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:94020800-94050600	Weak transcription	Fetal Thymus	thymus
3	chr1:94021000-94041200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:94022200-94044200	Weak transcription	Small Intestine	intestine
5	chr1:94024000-94044200	Strong transcription	HSMM	muscle
6	chr1:94024400-94040200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:94025000-94043400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:94025200-94043000	Strong transcription	Liver	Liver
9	chr1:94025200-94043000	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr1:94025400-94049400	Strong transcription	Hela-S3	cervix
11	chr1:94025600-94043400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
13	chr1:94026400-94040200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:94028000-94042600	Weak transcription	Fetal Kidney	kidney
15	chr1:94029000-94040600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:94030200-94046400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr1:94031200-94047800	Weak transcription	GM12878-XiMat	blood
18	chr1:94031400-94042000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:94031400-94042200	Strong transcription	Ovary	ovary
20	chr1:94031800-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:94032000-94041000	Strong transcription	Fetal Stomach	stomach
22	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:94032200-94040000	Strong transcription	Fetal Muscle Leg	muscle
24	chr1:94032200-94045200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:94033000-94050000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
26	chr1:94033400-94041000	Weak transcription	Brain Germinal Matrix	brain
27	chr1:94033400-94041200	Strong transcription	NHDF-Ad	bronchial
28	chr1:94033400-94041400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:94033400-94041400	Strong transcription	NH-A	brain
30	chr1:94033400-94041600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:94033400-94043200	Strong transcription	Aorta	Aorta
32	chr1:94033400-94044800	Weak transcription	Right Atrium	heart
33	chr1:94033400-94045000	Strong transcription	NHLF	lung
34	chr1:94033400-94045000	Strong transcription	Osteobl	bone
35	chr1:94033600-94041200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:94033600-94044000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:94034000-94041000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:94034000-94041200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:94034000-94041200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:94034000-94043800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr1:94034200-94042800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:94034400-94041400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:94034800-94041000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:94034800-94041400	Strong transcription	Fetal Intestine Large	intestine
45	chr1:94034800-94043000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr1:94035000-94044200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr1:94035200-94040400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:94035200-94041200	Strong transcription	HMEC	breast
49	chr1:94035200-94041400	Strong transcription	NHEK	skin
50	chr1:94035200-94042000	Strong transcription	HSMMtube	muscle

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