Variant report

Variant	rs35170264
Chromosome Location	chr5:145585867-145585868
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145575147..145576738-chr5:145585123..145587175,2	K562	blood:
2	chr5:145581226..145585152-chr5:145585587..145593073,9	K562	blood:
3	chr5:145557742..145559707-chr5:145585614..145588262,3	K562	blood:

Variant related genes	Relation type
ENSG00000091009	Chromatin interaction

Extended variants
information (count: 165 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs10515565	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10515566	0.91[ASN][1000 genomes]
rs10515567	0.89[ASN][1000 genomes]
rs1115080	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11167936	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11167937	0.89[ASN][1000 genomes]
rs11540215	0.82[ASN][1000 genomes]
rs11948016	0.82[ASN][1000 genomes]
rs11949351	0.82[ASN][1000 genomes]
rs11950903	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11952445	0.89[ASN][1000 genomes]
rs11953090	0.89[ASN][1000 genomes]
rs11953506	0.92[ASN][1000 genomes]
rs11954297	0.89[ASN][1000 genomes]
rs11955206	0.89[ASN][1000 genomes]
rs11955557	0.81[ASN][1000 genomes]
rs11957830	0.82[ASN][1000 genomes]
rs11957888	0.82[ASN][1000 genomes]
rs11957998	0.82[ASN][1000 genomes]
rs11958136	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12152830	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12187277	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12188772	0.82[ASN][1000 genomes]
rs12189077	0.89[ASN][1000 genomes]
rs13153891	0.95[ASN][1000 genomes]
rs13154219	0.89[ASN][1000 genomes]
rs13154735	0.82[ASN][1000 genomes]
rs13155119	0.85[ASN][1000 genomes]
rs13157279	0.82[ASN][1000 genomes]
rs13159380	0.82[ASN][1000 genomes]
rs13160605	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13160905	0.96[ASN][1000 genomes]
rs13161036	0.82[ASN][1000 genomes]
rs13161488	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13162175	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13168967	0.94[ASN][1000 genomes]
rs13169370	0.95[ASN][1000 genomes]
rs13169390	0.86[ASN][1000 genomes]
rs13171596	0.82[ASN][1000 genomes]
rs13171939	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13173347	0.92[ASN][1000 genomes]
rs13173462	0.87[ASN][1000 genomes]
rs13175587	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13176784	0.82[ASN][1000 genomes]
rs13176915	0.82[ASN][1000 genomes]
rs13177015	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13178443	0.89[ASN][1000 genomes]
rs13178755	0.82[ASN][1000 genomes]
rs13179296	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13179517	0.82[ASN][1000 genomes]
rs13180255	0.89[ASN][1000 genomes]
rs13183541	0.95[ASN][1000 genomes]
rs13183976	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13185518	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13185586	0.82[ASN][1000 genomes]
rs13186701	0.82[ASN][1000 genomes]
rs1368345	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1506431	0.84[ASN][1000 genomes]
rs1567057	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17096590	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17104321	0.86[AFR][1000 genomes]
rs17428647	0.82[ASN][1000 genomes]
rs17428724	0.82[ASN][1000 genomes]
rs17429180	0.94[ASN][1000 genomes]
rs17500927	0.82[ASN][1000 genomes]
rs17501177	0.94[ASN][1000 genomes]
rs17501601	0.91[ASN][1000 genomes]
rs17502157	0.89[ASN][1000 genomes]
rs17502233	0.88[ASN][1000 genomes]
rs17502345	0.88[ASN][1000 genomes]
rs17687490	0.88[ASN][1000 genomes]
rs1864948	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1876189	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2014462	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2014473	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2053045	0.84[ASN][1000 genomes]
rs2063002	0.82[ASN][1000 genomes]
rs2279895	0.82[ASN][1000 genomes]
rs2304032	0.89[ASN][1000 genomes]
rs2304033	0.89[ASN][1000 genomes]
rs2939523	0.85[ASN][1000 genomes]
rs2939533	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2939535	0.82[ASN][1000 genomes]
rs2962515	0.82[ASN][1000 genomes]
rs2963926	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs33914983	0.82[ASN][1000 genomes]
rs34014355	0.82[ASN][1000 genomes]
rs34082425	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34141601	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34405762	0.82[ASN][1000 genomes]
rs34444119	0.94[ASN][1000 genomes]
rs34519824	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34533649	0.84[ASN][1000 genomes]
rs34775587	0.89[ASN][1000 genomes]
rs34812645	0.93[ASN][1000 genomes]
rs35048686	0.82[ASN][1000 genomes]
rs35369194	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35421100	0.82[ASN][1000 genomes]
rs35575652	0.89[ASN][1000 genomes]
rs35870798	0.89[ASN][1000 genomes]
rs35935643	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35947468	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36019024	0.96[ASN][1000 genomes]
rs3937558	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4413574	0.82[ASN][1000 genomes]
rs4443471	0.82[ASN][1000 genomes]
rs4705156	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4705157	0.87[ASN][1000 genomes]
rs4705179	0.89[ASN][1000 genomes]
rs4705445	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55665974	0.82[ASN][1000 genomes]
rs55799797	0.80[ASN][1000 genomes]
rs55909935	0.82[ASN][1000 genomes]
rs55937908	0.92[ASN][1000 genomes]
rs56240028	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56338615	0.82[ASN][1000 genomes]
rs56410805	0.82[ASN][1000 genomes]
rs56413906	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58848845	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60892265	0.80[AFR][1000 genomes]
rs62372766	0.84[ASN][1000 genomes]
rs62372767	0.83[ASN][1000 genomes]
rs62372768	0.89[ASN][1000 genomes]
rs62372769	0.89[ASN][1000 genomes]
rs62372772	0.89[ASN][1000 genomes]
rs62372773	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62373809	0.82[ASN][1000 genomes]
rs62373810	0.82[ASN][1000 genomes]
rs62373811	0.82[ASN][1000 genomes]
rs62373812	0.82[ASN][1000 genomes]
rs62373813	0.81[ASN][1000 genomes]
rs62373819	0.82[ASN][1000 genomes]
rs62373823	0.80[EUR][1000 genomes]
rs62373824	0.84[ASN][1000 genomes]
rs62373831	0.95[ASN][1000 genomes]
rs6580413	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67859456	0.86[AFR][1000 genomes]
rs6867146	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6868728	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6870878	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6878005	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6881180	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6882517	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6884493	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6893994	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71594528	0.82[ASN][1000 genomes]
rs7443214	0.82[ASN][1000 genomes]
rs7702123	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7703269	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7711896	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7722258	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7724811	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7727353	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7729098	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9918101	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9918130	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv462475	chr5:145583623-145642007	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv599935	chr5:145583623-145642007	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv883010	chr5:145583623-145651979	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv883011	chr5:145583623-145672431	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35170264	LARS	cis	Thyroid	GTEx
rs35170264	LARS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145582800-145586000	Active TSS	K562	blood
2	chr5:145583800-145586000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr5:145583800-145589000	Weak transcription	Small Intestine	intestine
4	chr5:145584000-145586000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr5:145584200-145586200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:145584200-145586800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr5:145584200-145588800	Weak transcription	Fetal Intestine Small	intestine
8	chr5:145584400-145586600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr5:145584400-145586800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:145584400-145587200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:145584400-145587800	Weak transcription	Aorta	Aorta
12	chr5:145584400-145587800	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:145584400-145598800	Weak transcription	NH-A	brain
14	chr5:145584400-145606600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:145584600-145586600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:145584600-145586800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:145584600-145586800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:145584600-145586800	Enhancers	Brain Hippocampus Middle	brain
19	chr5:145584600-145588800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:145584600-145595600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:145584600-145606400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:145584800-145586200	Enhancers	HepG2	liver
23	chr5:145584800-145597200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:145584800-145599000	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:145584800-145608000	Weak transcription	Esophagus	oesophagus
26	chr5:145584800-145631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:145585000-145586000	Enhancers	NHLF	lung
28	chr5:145585000-145586200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:145585000-145586600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:145585000-145586800	Enhancers	Liver	Liver
31	chr5:145585000-145587800	Weak transcription	Adipose Nuclei	Adipose
32	chr5:145585000-145587800	Weak transcription	Fetal Intestine Large	intestine
33	chr5:145585000-145588000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:145585000-145588800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:145585000-145588800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:145585000-145589200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:145585000-145590200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr5:145585000-145590600	Weak transcription	Left Ventricle	heart
39	chr5:145585000-145593000	Weak transcription	Brain Substantia Nigra	brain
40	chr5:145585000-145593600	Weak transcription	Fetal Lung	lung
41	chr5:145585000-145598800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:145585000-145599000	Weak transcription	Fetal Brain Female	brain
43	chr5:145585000-145602600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:145585200-145586000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:145585200-145586000	Enhancers	HSMM	muscle
46	chr5:145585200-145586400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:145585200-145586400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr5:145585200-145586800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr5:145585200-145587800	Weak transcription	Brain Angular Gyrus	brain
50	chr5:145585200-145587800	Weak transcription	Stomach Mucosa	stomach

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