Variant report

Variant	rs35291206
Chromosome Location	chr5:145453377-145453378
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145453270..145454815-chr5:145478262..145480933,2	K562	blood:

Variant related genes	Relation type
ENSG00000251556	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1006204	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10491260	0.85[AMR][1000 genomes]
rs10491261	0.87[AMR][1000 genomes]
rs1054020	0.84[EUR][1000 genomes]
rs10988	0.82[AMR][1000 genomes]
rs11167931	0.82[AMR][1000 genomes]
rs11167932	0.82[AMR][1000 genomes]
rs11167933	0.81[AMR][1000 genomes]
rs11167934	0.82[AMR][1000 genomes]
rs11949352	0.87[AMR][1000 genomes]
rs11952697	0.87[AMR][1000 genomes]
rs11953586	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11954083	0.83[AMR][1000 genomes]
rs11954750	0.82[AMR][1000 genomes]
rs11955443	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11955635	0.80[AMR][1000 genomes]
rs11956508	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11960510	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12153238	0.82[AMR][1000 genomes]
rs12186358	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12186642	0.87[AMR][1000 genomes]
rs12187128	0.85[AMR][1000 genomes]
rs12187649	0.87[AMR][1000 genomes]
rs12187913	0.85[AMR][1000 genomes]
rs12188066	0.85[EUR][1000 genomes]
rs12188581	0.85[AMR][1000 genomes]
rs12189385	0.82[AMR][1000 genomes]
rs12374457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12374516	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12374538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12374539	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13162233	0.82[AMR][1000 genomes]
rs13174055	0.85[AMR][1000 genomes]
rs13175806	0.87[AMR][1000 genomes]
rs13181074	0.87[AMR][1000 genomes]
rs13182302	0.87[AMR][1000 genomes]
rs13182838	0.85[AMR][1000 genomes]
rs17104255	0.84[EUR][1000 genomes]
rs17212373	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17212380	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17426845	0.82[AMR][1000 genomes]
rs17492950	0.84[EUR][1000 genomes]
rs17500483	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17796852	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17796858	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17796864	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17796870	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17796876	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1985600	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2015248	0.85[AMR][1000 genomes]
rs2024055	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2024056	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2024057	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2063005	0.84[EUR][1000 genomes]
rs2240524	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2302036	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2400209	0.82[AMR][1000 genomes]
rs2939539	0.83[EUR][1000 genomes]
rs2962502	0.81[EUR][1000 genomes]
rs2962503	0.84[EUR][1000 genomes]
rs2962509	0.84[EUR][1000 genomes]
rs2962510	0.84[EUR][1000 genomes]
rs2962511	0.84[EUR][1000 genomes]
rs2963914	0.84[EUR][1000 genomes]
rs2963915	0.84[EUR][1000 genomes]
rs2963918	0.84[EUR][1000 genomes]
rs2963919	0.84[EUR][1000 genomes]
rs2963920	0.84[EUR][1000 genomes]
rs2963921	0.84[EUR][1000 genomes]
rs2963922	0.84[EUR][1000 genomes]
rs2963923	0.83[EUR][1000 genomes]
rs34071526	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34078408	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34160255	0.87[AMR][1000 genomes]
rs34170515	0.85[AMR][1000 genomes]
rs34516108	0.87[AMR][1000 genomes]
rs34530601	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34601905	0.87[AMR][1000 genomes]
rs34818573	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34818690	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34848484	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35048100	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35150639	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35228139	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35283996	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35652702	0.85[AMR][1000 genomes]
rs35676277	0.82[AMR][1000 genomes]
rs35801832	0.87[AMR][1000 genomes]
rs35869904	0.81[AMR][1000 genomes]
rs35917756	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3797626	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3797627	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3797628	0.82[AMR][1000 genomes]
rs3822623	0.82[AMR][1000 genomes]
rs41338847	0.87[AMR][1000 genomes]
rs4913061	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4913062	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4913063	0.85[AMR][1000 genomes]
rs4913064	0.85[AMR][1000 genomes]
rs4913065	0.84[EUR][1000 genomes]
rs4913066	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4913067	0.82[AMR][1000 genomes]
rs55782203	0.87[AMR][1000 genomes]
rs55874924	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56278005	0.82[AMR][1000 genomes]
rs56338521	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393319	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6580408	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67829086	0.87[AMR][1000 genomes]
rs6862371	0.85[EUR][1000 genomes]
rs6877277	0.81[AMR][1000 genomes]
rs6892928	0.85[EUR][1000 genomes]
rs7725078	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7728381	0.82[EUR][1000 genomes]
rs7728631	0.84[EUR][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35291206	LARS	cis	Thyroid	GTEx
rs35291206	LARS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145429600-145459600	Weak transcription	Stomach Mucosa	stomach
2	chr5:145442400-145461200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:145443200-145458000	Weak transcription	Liver	Liver
4	chr5:145443600-145461000	Weak transcription	Colonic Mucosa	Colon
5	chr5:145447400-145455000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:145447600-145455400	Weak transcription	Fetal Intestine Large	intestine
7	chr5:145448000-145460000	Weak transcription	Fetal Intestine Small	intestine
8	chr5:145448200-145455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:145448400-145458000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:145448600-145455800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:145449800-145454200	Enhancers	Left Ventricle	heart
12	chr5:145450000-145458600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:145450600-145461000	Weak transcription	Right Atrium	heart
14	chr5:145451000-145453400	Weak transcription	Psoas Muscle	Psoas
15	chr5:145451000-145459800	Weak transcription	Esophagus	oesophagus
16	chr5:145451600-145458200	Weak transcription	NHEK	skin
17	chr5:145451800-145456800	Enhancers	Fetal Heart	heart
18	chr5:145451800-145459000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:145451800-145459000	Weak transcription	HMEC	breast
20	chr5:145451800-145460000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:145451800-145460600	Weak transcription	Aorta	Aorta
22	chr5:145452200-145459400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:145452400-145454000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:145452600-145453400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:145452600-145453400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:145452600-145453600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr5:145452600-145453600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:145452800-145453400	Enhancers	Gastric	stomach
29	chr5:145452800-145453600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr5:145452800-145453600	Bivalent Enhancer	Fetal Lung	lung
31	chr5:145453000-145453400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:145453000-145453400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr5:145453000-145454200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:145453200-145453400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr5:145453200-145453400	Enhancers	Fetal Brain Female	brain
36	chr5:145453200-145453600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
37	chr5:145453200-145453600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
38	chr5:145453200-145453600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr5:145453200-145453600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
40	chr5:145453200-145453600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr5:145453200-145453600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr5:145453200-145453600	Enhancers	Pancreas	Pancrea
43	chr5:145453200-145453600	Enhancers	Right Ventricle	heart
44	chr5:145453200-145455800	Weak transcription	Brain Germinal Matrix	brain

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