Variant report

Variant	rs11800778
Chromosome Location	chr1:173431213-173431214
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11809166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811598	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12075952	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12085083	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12562415	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34035460	0.89[AFR][1000 genomes]
rs34619706	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35128709	0.89[AFR][1000 genomes]
rs35263596	0.90[ASN][1000 genomes]
rs3934577	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55741047	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55816799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57231379	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57262055	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57951216	0.89[ASN][1000 genomes]
rs59834293	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60302114	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60587131	0.90[ASN][1000 genomes]
rs60969203	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61061894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61261546	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6700269	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6700499	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6702339	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72726915	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72726936	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72726946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72726948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72726949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74126390	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7534736	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7555324	0.89[EUR][1000 genomes];0.86[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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11800778	RABGAP1L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173419000-173432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:173419000-173439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:173421000-173432200	Weak transcription	Fetal Brain Male	brain
4	chr1:173421400-173434000	Weak transcription	Psoas Muscle	Psoas
5	chr1:173423200-173432000	Weak transcription	A549	lung
6	chr1:173423400-173432600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:173423600-173432600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:173423800-173433400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:173423800-173436600	Weak transcription	NHDF-Ad	bronchial
10	chr1:173423800-173442400	Weak transcription	NH-A	brain
11	chr1:173425200-173442400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:173425400-173432200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:173426000-173431400	Weak transcription	Fetal Kidney	kidney
14	chr1:173428600-173431600	Strong transcription	Liver	Liver
15	chr1:173428800-173431400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:173428800-173431400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:173428800-173431400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:173428800-173431400	Strong transcription	Brain Anterior Caudate	brain
19	chr1:173428800-173432000	Strong transcription	Primary T cells from cord blood	blood
20	chr1:173429000-173431400	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:173429000-173431400	Strong transcription	Spleen	Spleen
22	chr1:173429000-173431400	Strong transcription	HSMM	muscle
23	chr1:173429000-173431800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:173429000-173432600	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:173429200-173431400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:173429400-173431400	Strong transcription	Dnd41	blood
27	chr1:173429400-173431800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:173429400-173433600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:173429400-173439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:173429600-173431400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:173429600-173431400	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:173429600-173433400	Weak transcription	HMEC	breast
33	chr1:173429800-173431400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:173430200-173431400	Strong transcription	K562	blood
35	chr1:173430400-173435000	Weak transcription	Brain Angular Gyrus	brain
36	chr1:173430400-173437200	Weak transcription	NHLF	lung
37	chr1:173430400-173437800	Weak transcription	Esophagus	oesophagus
38	chr1:173430400-173439200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:173430400-173442400	Weak transcription	Gastric	stomach
40	chr1:173430400-173442800	Weak transcription	Pancreas	Pancrea
41	chr1:173430400-173444400	Weak transcription	Right Ventricle	heart
42	chr1:173430600-173431800	Weak transcription	Fetal Intestine Small	intestine
43	chr1:173430600-173432000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:173430600-173432400	Weak transcription	Colonic Mucosa	Colon
45	chr1:173430600-173433200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:173430600-173438000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:173430600-173438800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:173430600-173439000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:173430600-173439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:173430600-173442600	Weak transcription	Aorta	Aorta

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