Variant report

Variant	rs7548776
Chromosome Location	chr1:47160738-47160739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1258073	1.00[AMR][1000 genomes]
rs17102445	1.00[AMR][1000 genomes]
rs17102448	1.00[AMR][1000 genomes]
rs17102449	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47141400-47183400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:47143800-47171600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:47154000-47161000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:47154600-47183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:47155600-47161000	Weak transcription	Fetal Brain Male	brain
6	chr1:47155600-47169000	Weak transcription	Stomach Mucosa	stomach
7	chr1:47156200-47160800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:47156600-47161000	Weak transcription	NHDF-Ad	bronchial
9	chr1:47157200-47161000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:47157600-47160800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:47157600-47160800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:47157600-47160800	Weak transcription	Brain Substantia Nigra	brain
13	chr1:47157600-47161000	Weak transcription	Esophagus	oesophagus
14	chr1:47157600-47161000	Weak transcription	Ovary	ovary
15	chr1:47157600-47161200	Weak transcription	Aorta	Aorta
16	chr1:47157600-47161200	Weak transcription	Gastric	stomach
17	chr1:47157600-47172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:47157800-47160800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:47157800-47160800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:47157800-47161000	Weak transcription	NH-A	brain
21	chr1:47158000-47160800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:47158000-47160800	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:47158000-47160800	Weak transcription	A549	lung
24	chr1:47158000-47160800	Weak transcription	HUVEC	blood vessel
25	chr1:47158000-47161000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:47158000-47161000	Weak transcription	Fetal Kidney	kidney
27	chr1:47158000-47161000	Weak transcription	Fetal Stomach	stomach
28	chr1:47158000-47161200	Weak transcription	Pancreas	Pancrea
29	chr1:47158200-47160800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:47158200-47160800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:47158200-47160800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:47158200-47160800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:47158200-47160800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:47158200-47160800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:47158200-47160800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:47158200-47160800	Weak transcription	Adipose Nuclei	Adipose
37	chr1:47158200-47160800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:47158200-47160800	Weak transcription	Osteobl	bone
39	chr1:47158200-47161000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:47158200-47161000	Weak transcription	Colonic Mucosa	Colon
41	chr1:47158200-47161000	Weak transcription	Fetal Brain Female	brain
42	chr1:47158200-47161000	Weak transcription	Fetal Lung	lung
43	chr1:47158200-47172000	Weak transcription	Brain Angular Gyrus	brain
44	chr1:47158400-47160800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:47158400-47160800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:47158400-47160800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:47158400-47160800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:47158400-47161000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:47158400-47161000	Weak transcription	NHLF	lung
50	chr1:47158600-47160800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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