Variant report

Variant	rs9430118
Chromosome Location	chr1:213418029-213418030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213403677..213405809-chr1:213417611..213420173,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10127851	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10864034	0.83[AMR][1000 genomes]
rs10864036	0.82[AMR][1000 genomes]
rs10864038	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11120082	0.80[CEU][hapmap]
rs11120102	0.81[CEU][hapmap]
rs1391549	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[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];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1566247	0.83[AMR][1000 genomes]
rs17020338	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1995151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2173398	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2494767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647387	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2817976	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2817978	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2817981	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2817984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2841425	0.89[ASN][1000 genomes]
rs2841427	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2841439	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4655386	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951476	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs4951479	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs4951662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs4951677	0.92[AMR][1000 genomes];0.82[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]
rs6540778	0.82[AMR][1000 genomes]
rs6540780	0.85[AMR][1000 genomes]
rs6540781	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6540782	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6657234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6658259	0.81[AMR][1000 genomes]
rs6666814	0.82[AMR][1000 genomes]
rs6671872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs6692056	0.85[AMR][1000 genomes]
rs6692144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs6693291	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6697921	0.80[CEU][hapmap]
rs6700169	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7535369	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7547274	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9308430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429901	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9429902	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430120	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430121	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9430122	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9430123	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv1012014	chr1:213371127-213423214	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001201	chr1:213385827-213428021	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv508693	chr1:213406220-213421626	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9430118	RPS6KC1	cis	Artery Tibial	GTEx
rs9430118	ANGEL2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
3	chr1:213370800-213427600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:213373000-213423000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:213378800-213421200	Weak transcription	Fetal Kidney	kidney
6	chr1:213381600-213425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:213388000-213424600	Weak transcription	Gastric	stomach
8	chr1:213388200-213426200	Weak transcription	Lung	lung
9	chr1:213388200-213455400	Weak transcription	Placenta	Placenta
10	chr1:213388600-213418200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:213391200-213439200	Weak transcription	Primary B cells from cord blood	blood
12	chr1:213394400-213420200	Weak transcription	GM12878-XiMat	blood
13	chr1:213398600-213427200	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:213401200-213447400	Weak transcription	Small Intestine	intestine
15	chr1:213402800-213454800	Weak transcription	Brain Substantia Nigra	brain
16	chr1:213405400-213423000	Weak transcription	A549	lung
17	chr1:213405600-213418200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:213405600-213418200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:213405600-213440000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:213405600-213454800	Weak transcription	Brain Angular Gyrus	brain
21	chr1:213405800-213423200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:213405800-213423800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:213405800-213436000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:213405800-213457600	Weak transcription	NHLF	lung
25	chr1:213406000-213418200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:213406000-213418200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:213406000-213450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:213406200-213418200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:213406200-213418200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:213406200-213418200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:213406200-213418600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:213406200-213421200	Weak transcription	Psoas Muscle	Psoas
33	chr1:213406200-213422000	Weak transcription	HSMM	muscle
34	chr1:213406200-213445600	Weak transcription	NHDF-Ad	bronchial
35	chr1:213406200-213454800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:213408600-213418200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:213409800-213424200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:213412400-213418200	Weak transcription	Fetal Heart	heart
39	chr1:213412600-213452400	Weak transcription	Right Ventricle	heart
40	chr1:213412800-213418400	Weak transcription	Fetal Brain Female	brain
41	chr1:213413600-213418200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:213414600-213425400	Weak transcription	NH-A	brain
43	chr1:213414600-213438400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:213414600-213440000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:213414800-213445400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:213414800-213445600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:213415000-213418200	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:213415000-213419400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:213415000-213421800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:213415000-213440400	Weak transcription	Ovary	ovary

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