Variant report

Variant	rs7518332
Chromosome Location	chr1:212398542-212398543
allele	A/G
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:5)

rs_ID	r²[population]
rs17018767	0.90[AFR][1000 genomes]
rs17018784	0.85[AFR][1000 genomes]
rs17018792	0.93[AFR][1000 genomes]
rs1908141	0.93[AFR][1000 genomes]
rs7534621	0.86[AFR][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212391200-212399000	Weak transcription	Pancreas	Pancrea
2	chr1:212392000-212399400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:212392200-212398600	Weak transcription	Right Ventricle	heart
4	chr1:212392200-212399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:212392200-212399200	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:212392400-212398600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:212392600-212399000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:212392600-212399200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:212392600-212404800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:212393200-212398600	Weak transcription	Primary T cells from cord blood	blood
11	chr1:212393400-212398800	Weak transcription	Stomach Mucosa	stomach
12	chr1:212393600-212398600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:212393600-212398600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:212393600-212398800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:212393600-212398800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:212393600-212399200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:212393600-212399200	Weak transcription	Small Intestine	intestine
18	chr1:212393800-212398600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:212393800-212399000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:212393800-212399000	Weak transcription	Fetal Heart	heart
21	chr1:212394800-212399200	Weak transcription	Gastric	stomach
22	chr1:212395200-212399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:212395200-212399000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:212395200-212399200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:212395400-212398600	Weak transcription	Fetal Kidney	kidney
26	chr1:212395400-212398800	Weak transcription	Fetal Lung	lung
27	chr1:212395400-212399000	Weak transcription	Spleen	Spleen
28	chr1:212395400-212399200	Weak transcription	Left Ventricle	heart
29	chr1:212395600-212399200	Weak transcription	Right Atrium	heart
30	chr1:212397400-212400000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:212397400-212400200	Enhancers	Adipose Nuclei	Adipose
32	chr1:212397600-212400000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr1:212397800-212400000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:212397800-212400200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:212397800-212400200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:212398000-212402000	Enhancers	HepG2	liver
37	chr1:212398200-212400000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:212398200-212400000	Enhancers	Fetal Thymus	thymus
39	chr1:212398400-212398600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr1:212398400-212399200	Weak transcription	Lung	lung
41	chr1:212398400-212399400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:212398400-212399800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr1:212398400-212400000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr1:212398400-212400000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr1:212398400-212400000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:212398400-212400200	Enhancers	Primary T helper cells fromperipheralblood	blood

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