Variant report

Variant	rs3763457
Chromosome Location	chr7:108213926-108213927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:108199426-108221976	K562	blood:	n/a	n/a
2	POLR2A	chr7:108213593-108217498	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107786172..107787859-chr7:108212708..108215561,2	MCF-7	breast:
2	chr7:108163122..108173185-chr7:108207236..108216619,40	K562	blood:
3	chr7:108143422..108146244-chr7:108213317..108215644,2	K562	blood:
4	chr7:108159403..108171484-chr7:108200740..108214365,45	K562	blood:
5	chr7:108213141..108217464-chr7:108225107..108230596,8	K562	blood:
6	chr7:108162967..108170259-chr7:108208242..108216228,25	MCF-7	breast:

No data

Variant related genes	Relation type
THAP5	TF binding region
PNPLA8	TF binding region
ENSG00000135241	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11974559	0.83[ASN][1000 genomes]
rs12666562	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35372181	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs40872	0.83[ASN][1000 genomes]
rs40875	0.83[ASN][1000 genomes]
rs40878	0.83[ASN][1000 genomes]
rs40880	0.83[ASN][1000 genomes]
rs40885	0.83[ASN][1000 genomes]
rs40886	0.83[ASN][1000 genomes]
rs40895	0.83[ASN][1000 genomes]
rs40899	0.83[ASN][1000 genomes]
rs40900	0.83[ASN][1000 genomes]
rs40901	0.83[ASN][1000 genomes]
rs40902	0.83[ASN][1000 genomes]
rs40908	0.83[ASN][1000 genomes]
rs40910	0.83[ASN][1000 genomes]
rs40912	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs40914	0.86[EUR][1000 genomes]
rs40915	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40919	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs40921	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs40923	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40924	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40925	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40926	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs40928	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40931	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs40932	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs40934	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40936	0.86[EUR][1000 genomes]
rs40938	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40939	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40940	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40941	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40942	0.87[EUR][1000 genomes]
rs40944	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40945	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40946	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40947	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40948	0.87[EUR][1000 genomes]
rs71568528	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv981570	chr7:108213540-108214810	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3763457	DNAJB9	cis	cerebellar cortex	BrainEAC
rs3763457	THAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108211200-108214200	Weak transcription	Small Intestine	intestine
2	chr7:108211200-108219400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:108211200-108219600	Weak transcription	Lung	lung
4	chr7:108211400-108215400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:108211400-108216600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:108211400-108217400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:108211400-108219400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:108211400-108219600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:108211400-108219600	Weak transcription	Colonic Mucosa	Colon
10	chr7:108211400-108219600	Weak transcription	Esophagus	oesophagus
11	chr7:108211400-108219600	Weak transcription	Ovary	ovary
12	chr7:108211400-108219800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:108211600-108214400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:108211600-108215800	Weak transcription	Thymus	Thymus
15	chr7:108211600-108219200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:108211600-108219200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:108211600-108219400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:108211600-108219400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:108211600-108220000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:108211800-108214600	Weak transcription	Stomach Mucosa	stomach
21	chr7:108211800-108218400	Weak transcription	NHLF	lung
22	chr7:108211800-108219800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:108212000-108214800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:108212000-108219400	Weak transcription	Brain Germinal Matrix	brain
25	chr7:108212000-108219600	Weak transcription	Fetal Stomach	stomach
26	chr7:108212000-108222600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:108212200-108214800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:108212200-108219400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:108212200-108219600	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:108212200-108219800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:108212400-108214400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:108212400-108214600	Weak transcription	Brain Angular Gyrus	brain
33	chr7:108212400-108215400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:108212400-108215600	Weak transcription	Pancreas	Pancrea
35	chr7:108212400-108215800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:108212400-108215800	Weak transcription	Adipose Nuclei	Adipose
37	chr7:108212400-108216400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:108212400-108216400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:108212400-108216600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:108212400-108217200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:108212400-108219200	Weak transcription	Fetal Brain Female	brain
42	chr7:108212400-108219400	Weak transcription	Aorta	Aorta
43	chr7:108212400-108219400	Weak transcription	Brain Anterior Caudate	brain
44	chr7:108212400-108219400	Weak transcription	Fetal Intestine Small	intestine
45	chr7:108212400-108219400	Weak transcription	Gastric	stomach
46	chr7:108212400-108219400	Weak transcription	Right Ventricle	heart
47	chr7:108212400-108219600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:108212400-108219600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:108212400-108219800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:108212400-108220000	Weak transcription	Right Atrium	heart

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