Variant report

Variant	rs3738337
Chromosome Location	chr1:220313853-220313854
allele	C/T
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:8)

rs_ID	r²[population]
rs10863533	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11095	0.81[EUR][1000 genomes]
rs12037461	0.85[EUR][1000 genomes]
rs2164790	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2289190	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3738336	0.81[EUR][1000 genomes]
rs59541021	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61830432	0.80[AMR][1000 genomes];0.86[EUR][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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220268400-220330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220269400-220330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:220278600-220316200	Weak transcription	Pancreas	Pancrea
4	chr1:220281400-220314400	Weak transcription	Fetal Brain Male	brain
5	chr1:220284600-220324600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:220288200-220324600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:220291200-220314400	Weak transcription	NH-A	brain
8	chr1:220296000-220327600	Weak transcription	Colonic Mucosa	Colon
9	chr1:220296600-220323200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:220298600-220321600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:220298800-220334600	Strong transcription	Fetal Thymus	thymus
12	chr1:220299000-220321200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:220299000-220322800	Weak transcription	Stomach Mucosa	stomach
14	chr1:220300000-220321000	Strong transcription	Fetal Intestine Large	intestine
15	chr1:220300000-220321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:220301000-220314600	Weak transcription	Right Ventricle	heart
17	chr1:220303200-220314600	Weak transcription	NHLF	lung
18	chr1:220303800-220331600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:220304600-220316400	Strong transcription	Fetal Stomach	stomach
20	chr1:220304800-220335600	Strong transcription	Placenta	Placenta
21	chr1:220305400-220315800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:220305400-220321600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:220305400-220331800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:220305400-220347000	Strong transcription	Dnd41	blood
25	chr1:220305400-220376600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:220305600-220316400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:220305600-220347600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:220305800-220321600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:220305800-220347000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:220306000-220314800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:220306000-220316400	Strong transcription	Left Ventricle	heart
32	chr1:220306000-220319800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:220306000-220321000	Strong transcription	Fetal Muscle Leg	muscle
34	chr1:220306000-220322000	Strong transcription	Liver	Liver
35	chr1:220306200-220315600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:220306200-220322800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:220306400-220316400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:220306400-220321400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr1:220306600-220317000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:220306600-220322800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:220306600-220336600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:220306600-220346600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:220306600-220348200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:220306800-220315400	Strong transcription	Fetal Kidney	kidney
45	chr1:220307000-220319600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:220307200-220315800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr1:220307200-220316600	Strong transcription	K562	blood
48	chr1:220307400-220314800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr1:220307400-220321600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:220308000-220314600	Weak transcription	Fetal Heart	heart

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