Variant report

Variant	rs7518476
Chromosome Location	chr1:149876686-149876687
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	chr1:149875657..149877242-chr1:150022210..150023854,2	K562	blood:
2	chr1:149814196..149815985-chr1:149875493..149877936,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000220323	Chromatin interaction
ENSG00000183558	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12087748	1.00[AMR][1000 genomes]
rs16837629	1.00[AMR][1000 genomes]
rs16837824	1.00[AMR][1000 genomes]
rs16838897	1.00[AMR][1000 genomes]
rs16841820	1.00[AMR][1000 genomes]
rs59956612	1.00[AMR][1000 genomes]
rs61277719	1.00[AMR][1000 genomes]
rs61570934	1.00[AMR][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	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	nsv831525	chr1:149701537-149878033	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription 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	424 gene(s)	inside rSNPs	diseases
3	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	chr1:149872200-149876800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:149872200-149877800	Weak transcription	Osteobl	bone
9	chr1:149872200-149879200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:149872200-149880600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:149872200-149881200	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:149872200-149882400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:149872200-149882800	Weak transcription	Small Intestine	intestine
14	chr1:149872200-149884200	Weak transcription	Fetal Brain Male	brain
15	chr1:149872200-149885600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:149872200-149887400	Weak transcription	Right Atrium	heart
17	chr1:149872200-149887600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:149872200-149887600	Weak transcription	NH-A	brain
19	chr1:149872200-149887800	Weak transcription	Placenta	Placenta
20	chr1:149872200-149888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:149872200-149888200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:149872200-149888400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:149872200-149888400	Weak transcription	Esophagus	oesophagus
24	chr1:149872400-149876800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:149872400-149878000	Weak transcription	Fetal Intestine Large	intestine
26	chr1:149872400-149878000	Weak transcription	Gastric	stomach
27	chr1:149872400-149878200	Weak transcription	Primary B cells from cord blood	blood
28	chr1:149872400-149878200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:149872400-149884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:149872400-149885800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:149872400-149887400	Weak transcription	Spleen	Spleen
32	chr1:149872400-149887600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:149872400-149888200	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:149872400-149888400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:149872400-149888400	Weak transcription	Right Ventricle	heart
36	chr1:149872600-149877400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:149872600-149878600	Weak transcription	Fetal Heart	heart
38	chr1:149872600-149886000	Weak transcription	Primary T cells from cord blood	blood
39	chr1:149872600-149886000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:149872600-149887200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:149872600-149887200	Weak transcription	Fetal Kidney	kidney
42	chr1:149872600-149887400	Weak transcription	Fetal Lung	lung
43	chr1:149872600-149888200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:149873000-149878000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:149873800-149885400	Strong transcription	Dnd41	blood
46	chr1:149874600-149882600	Strong transcription	Brain Germinal Matrix	brain
47	chr1:149874800-149885400	Strong transcription	Brain Anterior Caudate	brain
48	chr1:149874800-149885600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:149874800-149885800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:149875000-149878400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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