Variant report

Variant	rs9430122
Chromosome Location	chr1:213438392-213438393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10127851	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10864034	0.81[AMR][1000 genomes]
rs10864038	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11120102	0.84[CEU][hapmap]
rs1391549	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1391550	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1498357	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1566247	0.81[AMR][1000 genomes]
rs17020338	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1995151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2173398	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2494767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2647387	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2817976	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2817978	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2817981	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2817984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs2841425	0.89[ASN][1000 genomes]
rs2841427	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2841439	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655386	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4951479	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4951677	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6419469	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6419470	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6540780	0.83[AMR][1000 genomes]
rs6540781	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6540782	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6657234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6671872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6691488	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs6692056	0.83[AMR][1000 genomes]
rs6692144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs6693291	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6697921	0.83[CEU][hapmap]
rs6700169	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7535369	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7547274	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9308430	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9429901	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9429902	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9430118	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9430120	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9430121	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9430123	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9430122	ANGEL2	cis	Nerve Tibial	GTEx
rs9430122	RPS6KC1	cis	Artery Tibial	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213388200-213455400	Weak transcription	Placenta	Placenta
2	chr1:213391200-213439200	Weak transcription	Primary B cells from cord blood	blood
3	chr1:213401200-213447400	Weak transcription	Small Intestine	intestine
4	chr1:213402800-213454800	Weak transcription	Brain Substantia Nigra	brain
5	chr1:213405600-213440000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:213405600-213454800	Weak transcription	Brain Angular Gyrus	brain
7	chr1:213405800-213457600	Weak transcription	NHLF	lung
8	chr1:213406000-213450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:213406200-213445600	Weak transcription	NHDF-Ad	bronchial
10	chr1:213406200-213454800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:213412600-213452400	Weak transcription	Right Ventricle	heart
12	chr1:213414600-213438400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:213414600-213440000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:213414800-213445400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:213414800-213445600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:213415000-213440400	Weak transcription	Ovary	ovary
17	chr1:213415200-213440200	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:213415400-213450200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:213415600-213447200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:213415600-213451000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:213415600-213453800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:213415800-213440000	Weak transcription	Aorta	Aorta
23	chr1:213415800-213440200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:213415800-213440200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:213416000-213440200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:213417000-213439200	Weak transcription	Primary T cells from cord blood	blood
27	chr1:213417200-213438400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:213417200-213440200	Weak transcription	Fetal Stomach	stomach
29	chr1:213417200-213453600	Weak transcription	HSMMtube	muscle
30	chr1:213418400-213449200	Weak transcription	Fetal Lung	lung
31	chr1:213419000-213440200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:213419800-213439800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:213422200-213440400	Weak transcription	HSMM	muscle
34	chr1:213425000-213439800	Weak transcription	Left Ventricle	heart
35	chr1:213425000-213447400	Weak transcription	Pancreas	Pancrea
36	chr1:213425200-213440000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:213425400-213444200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:213427000-213446200	Weak transcription	A549	lung
39	chr1:213427000-213451400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:213428000-213442000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:213430400-213440200	Weak transcription	GM12878-XiMat	blood
42	chr1:213431200-213450600	Weak transcription	Psoas Muscle	Psoas
43	chr1:213432600-213440000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:213432600-213440200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:213433800-213454800	Weak transcription	Brain Anterior Caudate	brain
46	chr1:213434400-213440400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:213434400-213454800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:213434400-213454800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:213434600-213441800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:213434600-213449200	Weak transcription	Rectal Mucosa Donor 29	rectum

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