Variant report

Variant	rs60302114
Chromosome Location	chr1:173388476-173388477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173384031..173386139-chr1:173387670..173391355,5	K562	blood:
2	chr1:173383188..173385613-chr1:173387916..173390631,2	K562	blood:
3	chr1:173387025..173388692-chr1:173391343..173393384,2	K562	blood:
4	chr1:173386417..173388679-chr1:173795468..173797775,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10737300	0.81[ASN][1000 genomes]
rs11799616	0.81[ASN][1000 genomes]
rs11800778	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11808435	1.00[AFR][1000 genomes]
rs11809166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11811598	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12075952	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12085083	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12562415	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34591026	1.00[AFR][1000 genomes]
rs34619706	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3934577	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4554754	0.82[ASN][1000 genomes]
rs4916354	0.81[ASN][1000 genomes]
rs55741047	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55816799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57231379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57262055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59834293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60969203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61061894	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61261546	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6678064	0.81[ASN][1000 genomes]
rs6700269	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6700499	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6702339	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72709309	1.00[AFR][1000 genomes]
rs72726915	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72726936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72726946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72726948	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72726949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72726950	1.00[AFR][1000 genomes]
rs74126390	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7534736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7555324	0.97[EUR][1000 genomes];0.95[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
rs60302114	RABGAP1L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173348600-173389400	Weak transcription	Right Ventricle	heart
2	chr1:173363800-173389400	Weak transcription	Fetal Lung	lung
3	chr1:173370800-173389200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:173370800-173389200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:173370800-173389400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:173370800-173389400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:173370800-173389400	Weak transcription	Aorta	Aorta
8	chr1:173372000-173398600	Weak transcription	Brain Substantia Nigra	brain
9	chr1:173375200-173398600	Weak transcription	Esophagus	oesophagus
10	chr1:173376000-173389400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:173376200-173389400	Weak transcription	Brain Anterior Caudate	brain
12	chr1:173376200-173429000	Weak transcription	Gastric	stomach
13	chr1:173376400-173389000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:173376400-173389200	Weak transcription	Liver	Liver
15	chr1:173376400-173389200	Weak transcription	A549	lung
16	chr1:173376400-173389400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:173376400-173389400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:173376400-173389400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:173376400-173400800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:173376600-173389200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:173376600-173389400	Weak transcription	Colonic Mucosa	Colon
22	chr1:173376600-173389600	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:173376600-173392600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:173378400-173398400	Weak transcription	Brain Angular Gyrus	brain
25	chr1:173379000-173398400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:173379200-173393200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:173379600-173389200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:173380000-173389400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:173380000-173389600	Enhancers	Primary B cells from cord blood	blood
30	chr1:173380200-173389400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:173380200-173391200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:173380200-173398400	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:173380200-173398600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:173380200-173398600	Weak transcription	Psoas Muscle	Psoas
35	chr1:173380400-173389200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:173380400-173389200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:173380400-173389200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:173380400-173389400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:173380400-173389400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:173380400-173389400	Weak transcription	Pancreas	Pancrea
41	chr1:173380400-173392600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:173380400-173398400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:173380400-173398600	Weak transcription	Thymus	Thymus
44	chr1:173380400-173398800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:173381600-173389000	Weak transcription	Hela-S3	cervix
46	chr1:173381600-173389400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:173381800-173389400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:173383000-173389400	Weak transcription	Small Intestine	intestine
49	chr1:173383000-173390600	Weak transcription	Ovary	ovary
50	chr1:173383000-173398600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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