Variant report

Variant	rs10253210
Chromosome Location	chr7:108217692-108217693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:108216877..108218879-chr7:108232237..108234477,2	MCF-7	breast:
2	chr7:108217454..108219397-chr7:108235662..108238254,2	K562	blood:
3	chr7:108214879..108218601-chr7:108220209..108223552,3	MCF-7	breast:
4	chr7:108166053..108167730-chr7:108216942..108218659,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135241	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10156002	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10270723	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10282368	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1043615	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17426315	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2041003	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2058127	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2072212	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34668718	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40913	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs40916	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs40922	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs40927	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs40929	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs40930	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs40933	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs40937	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs40943	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4730324	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][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	nsv817371	chr7:108199882-108649799	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10253210	THAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108211200-108219400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:108211200-108219600	Weak transcription	Lung	lung
3	chr7:108211400-108219400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:108211400-108219600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:108211400-108219600	Weak transcription	Colonic Mucosa	Colon
6	chr7:108211400-108219600	Weak transcription	Esophagus	oesophagus
7	chr7:108211400-108219600	Weak transcription	Ovary	ovary
8	chr7:108211400-108219800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:108211600-108219200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:108211600-108219200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:108211600-108219400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:108211600-108219400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:108211600-108220000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:108211800-108218400	Weak transcription	NHLF	lung
15	chr7:108211800-108219800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:108212000-108219400	Weak transcription	Brain Germinal Matrix	brain
17	chr7:108212000-108219600	Weak transcription	Fetal Stomach	stomach
18	chr7:108212000-108222600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:108212200-108219400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:108212200-108219600	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:108212200-108219800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:108212400-108219200	Weak transcription	Fetal Brain Female	brain
23	chr7:108212400-108219400	Weak transcription	Aorta	Aorta
24	chr7:108212400-108219400	Weak transcription	Brain Anterior Caudate	brain
25	chr7:108212400-108219400	Weak transcription	Fetal Intestine Small	intestine
26	chr7:108212400-108219400	Weak transcription	Gastric	stomach
27	chr7:108212400-108219400	Weak transcription	Right Ventricle	heart
28	chr7:108212400-108219600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:108212400-108219600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:108212400-108219800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:108212400-108220000	Weak transcription	Right Atrium	heart
32	chr7:108212400-108220200	Weak transcription	Psoas Muscle	Psoas
33	chr7:108212400-108221600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr7:108212600-108219400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:108212600-108219400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:108212600-108220400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:108213000-108222200	Weak transcription	HMEC	breast
38	chr7:108214000-108219600	Weak transcription	Brain Substantia Nigra	brain
39	chr7:108214200-108219200	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:108214400-108219400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:108214400-108219800	Weak transcription	Fetal Lung	lung
42	chr7:108214400-108222200	Weak transcription	HSMMtube	muscle
43	chr7:108214400-108222600	Weak transcription	Small Intestine	intestine
44	chr7:108214400-108225000	Weak transcription	Fetal Brain Male	brain
45	chr7:108214600-108219400	Strong transcription	Liver	Liver
46	chr7:108214600-108219600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:108214600-108222200	Weak transcription	Fetal Kidney	kidney
48	chr7:108214800-108217800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr7:108214800-108219600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:108214800-108219600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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