Variant report

Variant	rs9991974
Chromosome Location	chr4:48135783-48135784
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10016563	0.98[EUR][1000 genomes]
rs10021919	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10033663	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861044	0.92[ASN][1000 genomes]
rs17470919	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17471024	0.86[EUR][1000 genomes]
rs17574399	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2456928	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2661532	0.98[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2661535	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28408546	0.86[ASN][1000 genomes]
rs28538414	0.86[ASN][1000 genomes]
rs28702422	0.85[EUR][1000 genomes]
rs3749503	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3792619	0.88[ASN][1000 genomes]
rs55683170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55809586	0.97[EUR][1000 genomes]
rs6814046	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6819804	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837324	0.81[EUR][1000 genomes]
rs73244489	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7654182	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7682890	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7684558	0.81[EUR][1000 genomes]
rs955692	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996223	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9991974	TEC	cis	lung	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48123000-48137600	Weak transcription	Gastric	stomach
2	chr4:48129200-48136600	Enhancers	Fetal Heart	heart
3	chr4:48129800-48140800	Weak transcription	Fetal Stomach	stomach
4	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:48130200-48137800	Weak transcription	Esophagus	oesophagus
6	chr4:48130400-48137800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:48130400-48138400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:48130400-48139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:48130400-48139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
12	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
13	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
15	chr4:48130600-48136000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:48130600-48137000	Weak transcription	Liver	Liver
17	chr4:48130600-48142800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:48130600-48146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:48131000-48137000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:48131000-48137800	Weak transcription	Aorta	Aorta
21	chr4:48131800-48137400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:48131800-48141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:48131800-48142000	Weak transcription	NHLF	lung
24	chr4:48132000-48136000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:48132000-48136000	Weak transcription	Fetal Lung	lung
26	chr4:48132000-48137600	Weak transcription	Spleen	Spleen
27	chr4:48132000-48141400	Weak transcription	HUVEC	blood vessel
28	chr4:48132000-48141600	Weak transcription	NHDF-Ad	bronchial
29	chr4:48132000-48157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:48132000-48157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:48132200-48136200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr4:48132200-48137400	Weak transcription	Fetal Intestine Large	intestine
33	chr4:48132200-48137800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:48132200-48137800	Weak transcription	Fetal Intestine Small	intestine
35	chr4:48132200-48137800	Weak transcription	Lung	lung
36	chr4:48132200-48138800	Weak transcription	Stomach Mucosa	stomach
37	chr4:48132200-48139800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:48132200-48141800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:48132400-48137800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:48132400-48142000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:48132600-48137600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:48132600-48138000	Weak transcription	Pancreas	Pancrea
43	chr4:48132600-48140200	Weak transcription	Right Ventricle	heart
44	chr4:48132600-48141000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:48133000-48136200	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr4:48133000-48136600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:48133000-48141800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:48133000-48151400	Weak transcription	HSMMtube	muscle
49	chr4:48133000-48153000	Weak transcription	Placenta	Placenta
50	chr4:48133200-48136400	Active TSS	Primary T cells fromperipheralblood	blood

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