Variant report

Variant	rs7354948
Chromosome Location	chr1:213443430-213443431
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1187794	0.86[AMR][1000 genomes]
rs1187803	0.87[AMR][1000 genomes]
rs2817983	0.88[AFR][1000 genomes]
rs2841428	0.85[AFR][1000 genomes]
rs2841431	0.91[AFR][1000 genomes]
rs2841434	0.85[AFR][1000 genomes]
rs2841435	0.91[AFR][1000 genomes]
rs2841436	0.88[AFR][1000 genomes]
rs4256785	0.94[AFR][1000 genomes]
rs4295858	0.94[AFR][1000 genomes]
rs4411110	0.97[AFR][1000 genomes]
rs4434818	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56060894	0.80[AMR][1000 genomes]
rs7418420	0.80[AMR][1000 genomes]
rs7530520	1.00[AFR][1000 genomes]
rs9430119	0.97[AFR][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	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213388200-213455400	Weak transcription	Placenta	Placenta
2	chr1:213401200-213447400	Weak transcription	Small Intestine	intestine
3	chr1:213402800-213454800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:213405600-213454800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:213405800-213457600	Weak transcription	NHLF	lung
6	chr1:213406000-213450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:213406200-213445600	Weak transcription	NHDF-Ad	bronchial
8	chr1:213406200-213454800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:213412600-213452400	Weak transcription	Right Ventricle	heart
10	chr1:213414800-213445400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:213414800-213445600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:213415400-213450200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:213415600-213447200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:213415600-213451000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:213415600-213453800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:213417200-213453600	Weak transcription	HSMMtube	muscle
17	chr1:213418400-213449200	Weak transcription	Fetal Lung	lung
18	chr1:213425000-213447400	Weak transcription	Pancreas	Pancrea
19	chr1:213425400-213444200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:213427000-213446200	Weak transcription	A549	lung
21	chr1:213427000-213451400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:213431200-213450600	Weak transcription	Psoas Muscle	Psoas
23	chr1:213433800-213454800	Weak transcription	Brain Anterior Caudate	brain
24	chr1:213434400-213454800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:213434400-213454800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:213434600-213449200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:213434600-213453800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:213434600-213453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:213435000-213445600	Weak transcription	K562	blood
30	chr1:213435000-213445800	Weak transcription	Liver	Liver
31	chr1:213435200-213456200	Weak transcription	Esophagus	oesophagus
32	chr1:213436400-213447600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:213438600-213445600	Weak transcription	Osteobl	bone
34	chr1:213438600-213449600	Weak transcription	Gastric	stomach
35	chr1:213440000-213447000	Weak transcription	Primary B cells from cord blood	blood
36	chr1:213440000-213451400	Weak transcription	NH-A	brain
37	chr1:213440000-213469800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:213440400-213450800	Weak transcription	Fetal Stomach	stomach
39	chr1:213440600-213445400	Weak transcription	Adipose Nuclei	Adipose
40	chr1:213440600-213447200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:213440600-213449400	Weak transcription	Ovary	ovary
42	chr1:213440600-213449800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:213440600-213452400	Weak transcription	Aorta	Aorta
44	chr1:213440600-213454200	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:213440600-213454400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:213440600-213454800	Weak transcription	Left Ventricle	heart
47	chr1:213440800-213445600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:213440800-213447200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:213440800-213447400	Weak transcription	Primary T cells from cord blood	blood
50	chr1:213440800-213447400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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