Variant report

Variant	rs2072212
Chromosome Location	chr7:108212110-108212111
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:108208976-108212142	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:108211992-108212398	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:108199426-108221976	K562	blood:	n/a	n/a
4	MXI1	chr7:108207302-108212533	SK-N-SH	brain:	n/a	n/a
5	IRF1	chr7:108210823-108212174	K562	blood:	n/a	chr7:108212006-108212020 chr7:108211827-108211841 chr7:108212010-108212020 chr7:108212003-108212015 chr7:108212010-108212024

No.	Distal block	Cell Line	Cell type
1	chr7:108095582..108097658-chr7:108210312..108212186,2	MCF-7	breast:
2	chr7:108141868..108144556-chr7:108210151..108212215,2	MCF-7	breast:
3	chr17:56735024..56736952-chr7:108209393..108212263,2	MCF-7	breast:
4	chr7:108163122..108173185-chr7:108207236..108216619,40	K562	blood:
5	chr7:108159403..108171484-chr7:108200740..108214365,45	K562	blood:
6	chr7:108162967..108170259-chr7:108208242..108216228,25	MCF-7	breast:
7	chr7:108209600..108213665-chr7:112090307..112092525,3	K562	blood:

Variant related genes	Relation type
DNAJB9	TF binding region
PNPLA8	TF binding region
THAP5	TF binding region
ENSG00000091129	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000006652	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10156002	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10253210	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10270723	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10282368	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1043615	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17426315	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2041003	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34668718	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40911	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs40913	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40916	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40918	0.85[EUR][1000 genomes]
rs40922	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs40927	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs40929	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs40930	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs40933	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs40937	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40943	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730324	0.87[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
rs2072212	THAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108207400-108213400	Active TSS	GM12878-XiMat	blood
2	chr7:108208600-108212400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:108208800-108212200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:108208800-108212200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:108208800-108212400	Active TSS	Right Ventricle	heart
6	chr7:108209200-108212200	Active TSS	Psoas Muscle	Psoas
7	chr7:108209400-108212200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:108209400-108212200	Active TSS	Brain Hippocampus Middle	brain
9	chr7:108209400-108212200	Active TSS	Fetal Intestine Small	intestine
10	chr7:108209400-108212200	Active TSS	HMEC	breast
11	chr7:108209400-108213200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr7:108209600-108212200	Active TSS	Duodenum Mucosa	Duodenum
13	chr7:108210400-108212400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:108210600-108212400	Active TSS	Right Atrium	heart
15	chr7:108210800-108212200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:108211000-108212200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr7:108211000-108212200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr7:108211000-108212400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:108211200-108212200	Weak transcription	Gastric	stomach
20	chr7:108211200-108212400	Flanking Active TSS	HUVEC	blood vessel
21	chr7:108211200-108214200	Weak transcription	Small Intestine	intestine
22	chr7:108211200-108219400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:108211200-108219600	Weak transcription	Lung	lung
24	chr7:108211400-108212200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:108211400-108212200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:108211400-108212200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:108211400-108212200	Weak transcription	Aorta	Aorta
28	chr7:108211400-108212200	Weak transcription	Left Ventricle	heart
29	chr7:108211400-108212200	Weak transcription	Pancreas	Pancrea
30	chr7:108211400-108212200	Flanking Active TSS	Dnd41	blood
31	chr7:108211400-108212400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:108211400-108212400	Enhancers	Primary B cells from peripheral blood	blood
33	chr7:108211400-108212400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr7:108211400-108213400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:108211400-108215400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr7:108211400-108216600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:108211400-108217400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr7:108211400-108219400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:108211400-108219600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:108211400-108219600	Weak transcription	Colonic Mucosa	Colon
41	chr7:108211400-108219600	Weak transcription	Esophagus	oesophagus
42	chr7:108211400-108219600	Weak transcription	Ovary	ovary
43	chr7:108211400-108219800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:108211600-108212200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr7:108211600-108212200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:108211600-108212200	Enhancers	Colon Smooth Muscle	Colon
47	chr7:108211600-108212200	Enhancers	HSMM	muscle
48	chr7:108211600-108212400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr7:108211600-108212400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr7:108211600-108212400	Enhancers	Primary T helper cells fromperipheralblood	blood

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