Variant report

Variant	rs73006309
Chromosome Location	chr1:149878329-149878330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57594441	1.00[AMR][1000 genomes]
rs60525620	1.00[AMR][1000 genomes]
rs60546338	1.00[AMR][1000 genomes]
rs73004391	1.00[AMR][1000 genomes]
rs73006315	1.00[AMR][1000 genomes]
rs73010199	1.00[AMR][1000 genomes]
rs73010202	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149871800-149887400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:149872000-149879400	Weak transcription	Ovary	ovary
3	chr1:149872000-149887400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:149872000-149887600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:149872000-149887600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:149872000-149887800	Weak transcription	HSMMtube	muscle
7	chr1:149872200-149879200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:149872200-149880600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:149872200-149881200	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:149872200-149882400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:149872200-149882800	Weak transcription	Small Intestine	intestine
12	chr1:149872200-149884200	Weak transcription	Fetal Brain Male	brain
13	chr1:149872200-149885600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:149872200-149887400	Weak transcription	Right Atrium	heart
15	chr1:149872200-149887600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:149872200-149887600	Weak transcription	NH-A	brain
17	chr1:149872200-149887800	Weak transcription	Placenta	Placenta
18	chr1:149872200-149888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:149872200-149888200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:149872200-149888400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:149872200-149888400	Weak transcription	Esophagus	oesophagus
22	chr1:149872400-149884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:149872400-149885800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:149872400-149887400	Weak transcription	Spleen	Spleen
25	chr1:149872400-149887600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:149872400-149888200	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:149872400-149888400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:149872400-149888400	Weak transcription	Right Ventricle	heart
29	chr1:149872600-149878600	Weak transcription	Fetal Heart	heart
30	chr1:149872600-149886000	Weak transcription	Primary T cells from cord blood	blood
31	chr1:149872600-149886000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:149872600-149887200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:149872600-149887200	Weak transcription	Fetal Kidney	kidney
34	chr1:149872600-149887400	Weak transcription	Fetal Lung	lung
35	chr1:149872600-149888200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:149873800-149885400	Strong transcription	Dnd41	blood
37	chr1:149874600-149882600	Strong transcription	Brain Germinal Matrix	brain
38	chr1:149874800-149885400	Strong transcription	Brain Anterior Caudate	brain
39	chr1:149874800-149885600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:149874800-149885800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:149875000-149878400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:149875000-149884400	Strong transcription	Fetal Brain Female	brain
43	chr1:149875000-149884600	Strong transcription	Brain Cingulate Gyrus	brain
44	chr1:149875000-149885400	Strong transcription	NHLF	lung
45	chr1:149875000-149885600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:149875000-149885600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:149875000-149885600	Strong transcription	Fetal Stomach	stomach
48	chr1:149875000-149886000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:149875000-149886200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:149875200-149885600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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