Variant report

Variant	rs35880371
Chromosome Location	chr7:108150622-108150623
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:108150467..108154049-chr7:108165742..108167801,3	K562	blood:

Variant related genes	Relation type
ENSG00000135241	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10487859	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973105	0.83[EUR][1000 genomes]
rs11974559	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11981670	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12666562	0.81[ASN][1000 genomes]
rs12705470	0.83[EUR][1000 genomes]
rs13227836	0.80[EUR][1000 genomes]
rs13228190	0.82[EUR][1000 genomes]
rs13229488	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238841	0.82[EUR][1000 genomes]
rs13245101	0.83[EUR][1000 genomes]
rs13245242	0.83[EUR][1000 genomes]
rs13307045	0.90[EUR][1000 genomes]
rs13312593	0.90[EUR][1000 genomes]
rs17155828	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17338441	0.83[EUR][1000 genomes]
rs17338462	0.83[EUR][1000 genomes]
rs17423043	0.83[EUR][1000 genomes]
rs17423119	0.83[EUR][1000 genomes]
rs17424206	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs194587	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2214913	0.83[EUR][1000 genomes]
rs2214914	0.88[EUR][1000 genomes]
rs2214915	0.88[EUR][1000 genomes]
rs2300048	0.82[EUR][1000 genomes]
rs2300052	0.83[EUR][1000 genomes]
rs3202837	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33987381	0.91[EUR][1000 genomes]
rs34218460	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34333829	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34583262	0.91[EUR][1000 genomes]
rs34814097	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34887057	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35372181	0.83[ASN][1000 genomes]
rs35436957	0.82[EUR][1000 genomes]
rs35617326	0.83[EUR][1000 genomes]
rs40843	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40845	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40850	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40854	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40872	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40875	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40878	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40880	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40882	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs40885	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40886	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40895	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40899	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40900	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40901	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40902	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40908	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40910	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40915	0.86[ASN][1000 genomes]
rs40923	0.86[ASN][1000 genomes]
rs40924	0.86[ASN][1000 genomes]
rs40925	0.86[ASN][1000 genomes]
rs40928	0.86[ASN][1000 genomes]
rs40934	0.81[ASN][1000 genomes]
rs40938	0.81[ASN][1000 genomes]
rs40939	0.81[ASN][1000 genomes]
rs40940	0.81[ASN][1000 genomes]
rs40941	0.81[ASN][1000 genomes]
rs40944	0.81[ASN][1000 genomes]
rs40945	0.81[ASN][1000 genomes]
rs40946	0.81[ASN][1000 genomes]
rs40947	0.81[ASN][1000 genomes]
rs41385644	0.91[EUR][1000 genomes]
rs4992578	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56145857	0.81[EUR][1000 genomes]
rs59458537	0.81[EUR][1000 genomes]
rs60398019	0.80[EUR][1000 genomes]
rs60426977	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466233	0.82[EUR][1000 genomes]
rs6466238	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66461825	0.83[EUR][1000 genomes]
rs67027479	0.83[EUR][1000 genomes]
rs67694466	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947492	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949637	0.83[EUR][1000 genomes]
rs6955152	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959023	0.83[EUR][1000 genomes]
rs6967368	0.89[EUR][1000 genomes]
rs6976309	0.83[EUR][1000 genomes]
rs6976649	0.83[EUR][1000 genomes]
rs6976659	0.83[EUR][1000 genomes]
rs6976752	0.83[EUR][1000 genomes]
rs6976776	0.83[EUR][1000 genomes]
rs6976804	0.83[EUR][1000 genomes]
rs6978552	0.82[EUR][1000 genomes]
rs71213282	0.83[EUR][1000 genomes]
rs71568528	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7784170	0.82[EUR][1000 genomes]
rs7786947	0.83[EUR][1000 genomes]
rs7790875	0.82[EUR][1000 genomes]
rs7806869	0.81[EUR][1000 genomes]
rs7807737	0.83[EUR][1000 genomes]
rs7807941	0.83[EUR][1000 genomes]
rs7811808	0.85[EUR][1000 genomes]
rs9649307	0.83[EUR][1000 genomes]
rs9649308	0.84[EUR][1000 genomes]
rs9785056	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv981569	chr7:108143507-108152160	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35880371	THAP5	cis	Esophagus Muscularis	GTEx
rs35880371	THAP5	Cis_1M	lymphoblastoid	RTeQTL
rs35880371	THAP5	cis	Heart Left Ventricle	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108102800-108158400	Weak transcription	HSMMtube	muscle
2	chr7:108105800-108158000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:108106200-108150800	Weak transcription	NHLF	lung
4	chr7:108109000-108162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:108111400-108154800	Weak transcription	NHEK	skin
6	chr7:108113200-108157000	Weak transcription	Psoas Muscle	Psoas
7	chr7:108113800-108150800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:108113800-108165800	Weak transcription	Gastric	stomach
9	chr7:108114000-108165000	Weak transcription	Colonic Mucosa	Colon
10	chr7:108114400-108160000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:108115200-108151800	Weak transcription	NHDF-Ad	bronchial
12	chr7:108117200-108151800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:108117800-108164200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:108119200-108157600	Weak transcription	Brain Germinal Matrix	brain
15	chr7:108119800-108151000	Weak transcription	Fetal Kidney	kidney
16	chr7:108119800-108151800	Weak transcription	Thymus	Thymus
17	chr7:108119800-108151800	Weak transcription	HMEC	breast
18	chr7:108119800-108154800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:108119800-108158200	Weak transcription	Aorta	Aorta
20	chr7:108121600-108158200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:108128200-108158000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:108130000-108165000	Weak transcription	Pancreas	Pancrea
23	chr7:108130200-108162000	Weak transcription	Hela-S3	cervix
24	chr7:108130800-108165000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:108132400-108151000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:108132800-108158400	Weak transcription	A549	lung
27	chr7:108133600-108154800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:108133600-108155600	Weak transcription	Fetal Heart	heart
29	chr7:108135200-108158000	Weak transcription	Right Ventricle	heart
30	chr7:108135600-108151800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:108136000-108163000	Weak transcription	HepG2	liver
32	chr7:108137200-108158200	Weak transcription	NH-A	brain
33	chr7:108138000-108154600	Weak transcription	K562	blood
34	chr7:108140200-108151000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:108140600-108157600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:108140800-108154400	Weak transcription	HUVEC	blood vessel
37	chr7:108140800-108157600	Weak transcription	Brain Substantia Nigra	brain
38	chr7:108141200-108158200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:108141400-108165000	Weak transcription	Spleen	Spleen
40	chr7:108141800-108151600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:108142000-108151400	Weak transcription	HSMM	muscle
42	chr7:108142000-108151600	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:108142000-108161600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:108142200-108150800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:108142200-108150800	Weak transcription	Liver	Liver
46	chr7:108142200-108150800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:108142200-108151000	Weak transcription	Dnd41	blood
48	chr7:108142200-108151600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:108142200-108151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:108142200-108151600	Weak transcription	Rectal Mucosa Donor 31	rectum

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