Variant report

Variant	rs2783505
Chromosome Location	chr1:93682090-93682091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93681797..93684803-chr1:93687466..93690297,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1010476	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10874766	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11164896	0.88[EUR][1000 genomes]
rs11164905	0.88[EUR][1000 genomes]
rs12027142	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12033147	0.88[EUR][1000 genomes]
rs12036057	0.80[EUR][1000 genomes]
rs12038046	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12045001	0.88[EUR][1000 genomes]
rs12046063	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12563709	0.88[EUR][1000 genomes]
rs2255722	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2281524	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2484486	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2783490	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2783493	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2783495	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2783496	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2783497	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2783499	0.86[ASN][1000 genomes]
rs2783500	0.86[ASN][1000 genomes]
rs2783501	0.86[ASN][1000 genomes]
rs2783504	0.87[ASN][1000 genomes]
rs2815406	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2815415	0.89[ASN][1000 genomes]
rs2815429	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28782525	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2893242	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3087457	0.80[EUR][1000 genomes]
rs3904666	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs489183	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs556446	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs579138	0.80[AMR][1000 genomes]
rs61799470	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61799496	0.87[ASN][1000 genomes]
rs61799497	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61799517	0.88[EUR][1000 genomes]
rs771454	0.80[EUR][1000 genomes]
rs771461	0.80[EUR][1000 genomes]
rs771465	0.80[EUR][1000 genomes]
rs771476	0.80[EUR][1000 genomes]
rs771479	0.80[EUR][1000 genomes]
rs771482	0.80[EUR][1000 genomes]
rs810027	0.80[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	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2783505	DR1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93688000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:93647000-93688600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:93647000-93756400	Weak transcription	Gastric	stomach
4	chr1:93647200-93684400	Weak transcription	NH-A	brain
5	chr1:93647200-93685000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:93647200-93707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:93647600-93706600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:93649000-93684800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:93651000-93684800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:93654200-93708400	Weak transcription	Esophagus	oesophagus
12	chr1:93654600-93708000	Weak transcription	Ovary	ovary
13	chr1:93656400-93686200	Weak transcription	Aorta	Aorta
14	chr1:93657600-93708400	Weak transcription	Left Ventricle	heart
15	chr1:93658600-93684800	Weak transcription	Primary T cells from cord blood	blood
16	chr1:93658800-93684400	Weak transcription	Osteobl	bone
17	chr1:93660600-93705200	Weak transcription	Lung	lung
18	chr1:93660800-93685000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:93661400-93708200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:93661800-93702800	Weak transcription	Fetal Heart	heart
21	chr1:93661800-93708200	Weak transcription	Fetal Brain Female	brain
22	chr1:93663600-93705600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:93665400-93684200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:93665400-93684400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:93665400-93685000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:93665400-93688800	Weak transcription	NHLF	lung
27	chr1:93665400-93708400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:93665400-93708400	Weak transcription	Spleen	Spleen
29	chr1:93665600-93683000	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:93665600-93697600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:93665600-93702600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:93665600-93707800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:93665800-93684200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:93665800-93684400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:93665800-93693200	Weak transcription	Fetal Intestine Small	intestine
36	chr1:93665800-93706600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:93665800-93707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:93666200-93684200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:93666600-93727000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:93667400-93687600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:93667400-93695400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:93668000-93683600	Weak transcription	Adipose Nuclei	Adipose
43	chr1:93668600-93683400	Weak transcription	NHDF-Ad	bronchial
44	chr1:93668600-93684200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:93668800-93685200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:93668800-93686000	Weak transcription	Fetal Lung	lung
47	chr1:93668800-93695200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:93668800-93697600	Weak transcription	Fetal Intestine Large	intestine
49	chr1:93668800-93708400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:93669600-93684400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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