Variant report

Variant	rs8064241
Chromosome Location	chr17:45933341-45933342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr17:45932850-45933574	PFSK-1	brain:	n/a	n/a
2	SPI1	chr17:45933222-45933365	K562	blood:	n/a	n/a
3	POLR2A	chr17:45933175-45933463	HUVEC	blood vessel:	n/a	n/a
4	MYC	chr17:45933213-45933416	HUVEC	blood vessel:	n/a	n/a
5	FOXP2	chr17:45933084-45933396	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr17:45933072-45933574	HUVEC	blood vessel:	n/a	n/a
7	REST	chr17:45932985-45933525	PFSK-1	brain:	n/a	n/a
8	REST	chr17:45933126-45933422	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr17:45932975-45933398	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:45933306-45933356	AG10803	skin:	n/a
2	chr17:45933306-45933356	GM12891	blood:	n/a
3	chr17:45933306-45933356	PFSK-1	brain:	n/a
4	chr17:45933306-45933356	ProgFib	skin:	n/a
5	chr17:45933306-45933356	HCF	heart:	n/a
6	chr17:45933306-45933356	HRCEpiC	kidney:	n/a
7	chr17:45933306-45933356	ovcar-3	ovarian:	n/a
8	chr17:45933306-45933356	K562	blood:	n/a
9	chr17:45933306-45933356	ECC-1	luminal epithelium:	n/a
10	chr17:45933306-45933356	A549	lung:	n/a
11	chr17:45933306-45933356	SKMC	muscle:	n/a
12	chr17:45933306-45933356	LNCaP	prostate:	n/a
13	chr17:45933306-45933356	HL-60	blood:	n/a
14	chr17:45933306-45933356	SAEC	small airway:	n/a
15	chr17:45933306-45933356	GM12878	blood:	n/a
16	chr17:45933306-45933356	AG04449	skin:	fetal
17	chr17:45933306-45933356	HRE	kidney:	n/a
18	chr17:45933306-45933356	PANC-1	pancreas:	n/a
19	chr17:45933306-45933356	HEEpiC	esophagus:	n/a
20	chr17:45933306-45933356	HCPEpiC	choroid plexus:	n/a
21	chr17:45933306-45933356	IMR90	lung:	fetal
22	chr17:45933306-45933356	NHBE	bronchial:	n/a
23	chr17:45933306-45933356	HCT-116	colon:	n/a
24	chr17:45933306-45933356	NH-A	brain:	n/a
25	chr17:45933306-45933356	HAEpiC	amniotic membrane:	n/a
26	chr17:45933306-45933356	AG04450	lung:	fetal
27	chr17:45933306-45933356	T-47D	breast:	n/a
28	chr17:45933306-45933356	HEK293	kidney:	embryo
29	chr17:45933306-45933356	NT2-D1	testis:	n/a
30	chr17:45933306-45933356	MCF10A-Er-Src	breast:	n/a
31	chr17:45933306-45933356	NHDF-neo	bronchial:	n/a
32	chr17:45933306-45933356	Jurkat	blood:	n/a
33	chr17:45933306-45933356	HUVEC	blood vessel:	n/a
34	chr17:45933306-45933356	GM12892	blood:	n/a
35	chr17:45933306-45933356	H1-hESC	embryonic stem cell:	embryo
36	chr17:45933306-45933356	AG09309	skin:	n/a
37	chr17:45933306-45933356	RPTEC	kidney:	n/a
38	chr17:45933306-45933356	Caco-2	colon:	n/a
39	chr17:45933306-45933356	HCM	heart:	n/a
40	chr17:45933306-45933356	HMEC	breast:	n/a
41	chr17:45933306-45933356	Hela-S3	cervix:	n/a
42	chr17:45933306-45933356	SK-N-SH_RA	brain:	n/a
43	chr17:45933306-45933356	U87	brain:	n/a
44	chr17:45933306-45933356	AoSMC	blood vessel:	n/a
45	chr17:45933306-45933356	SK-N-MC	brain:	n/a
46	chr17:45933306-45933356	HepG2	liver:	n/a
47	chr17:45933306-45933356	PrEC	prostate:	n/a
48	chr17:45933306-45933356	BE2_C	brain:	n/a
49	chr17:45933306-45933356	GM06990	blood:	n/a
50	chr17:45933306-45933356	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr17:45927036..45931880-chr17:45931939..45936922,11	K562	blood:
2	chr17:45931856..45934572-chr17:45940574..45944336,3	K562	blood:
3	chr17:45931240..45934148-chr17:45971745..45974291,3	MCF-7	breast:
4	chr17:45908091..45909989-chr17:45932469..45934712,2	K562	blood:
5	chr17:45927380..45931249-chr17:45931939..45938449,12	K562	blood:
6	chr17:45932084..45934510-chr17:46047359..46049635,2	K562	blood:

No data

Variant related genes	Relation type
SP6	TF binding region
SP6	CpG island
ENSG00000189120	Chromatin interaction
ENSG00000141294	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000264243	Chromatin interaction
ENSG00000159111	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000167182	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12452366	0.88[ASN][1000 genomes]
rs2001381	0.90[CHB][hapmap]
rs35598018	0.88[ASN][1000 genomes]
rs4362431	0.95[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs4794203	0.83[ASN][1000 genomes]
rs4994571	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9303536	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9904820	0.95[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs9910474	0.85[ASN][1000 genomes]
rs9912331	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv517880	chr17:45887951-45933341	Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8064241	OSBPL7	cis	Thyroid	GTEx
rs8064241	VAT1	cis	cerebellum	SCAN
rs8064241	LRRC46	cis	Thyroid	GTEx
rs8064241	NPEPPS	cis	cerebellum	SCAN
rs8064241	MRPL10	cis	lymphoblastoid	seeQTL
rs8064241	AOC3	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45929800-45940000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:45930800-45935600	Weak transcription	K562	blood
3	chr17:45932200-45933600	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr17:45932800-45933400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
5	chr17:45932800-45933400	Enhancers	Spleen	Spleen
6	chr17:45932800-45934400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:45933000-45933400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:45933000-45933400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:45933000-45933400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr17:45933000-45933600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:45933000-45933600	Flanking Active TSS	HUVEC	blood vessel
12	chr17:45933000-45933800	Bivalent Enhancer	Adipose Nuclei	Adipose
13	chr17:45933000-45933800	Bivalent Enhancer	Fetal Heart	heart
14	chr17:45933000-45934200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:45933000-45935200	Enhancers	Placenta	Placenta
16	chr17:45933200-45933400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:45933200-45933400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:45933200-45933400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
19	chr17:45933200-45933400	Bivalent Enhancer	HSMM	muscle
20	chr17:45933200-45933600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:45933200-45933800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr17:45933200-45934400	Enhancers	Lung	lung
23	chr17:45933200-45935600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:45933200-45935600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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