Variant report

Variant	rs73696854
Chromosome Location	chr8:91017779-91017780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr8:91017482-91018453	GM12878	blood:	n/a	chr8:91017717-91017726 chr8:91017717-91017726
2	SPI1	chr8:91017469-91018581	GM12878	blood:	n/a	chr8:91017730-91017737
3	SPI1	chr8:91017520-91018586	HL-60	blood:	n/a	chr8:91017730-91017737
4	EP300	chr8:91017749-91017836	K562	blood:	n/a	n/a
5	SPI1	chr8:91017647-91017779	K562	blood:	n/a	chr8:91017730-91017737
6	TBL1XR1	chr8:91017740-91017811	K562	blood:	n/a	n/a
7	POLR2A	chr8:91017669-91018591	GM12878	blood:	n/a	n/a
8	YY1	chr8:91017626-91017815	K562	blood:	n/a	n/a
9	POLR2A	chr8:91016594-91017816	MCF10A-Er-Src	breast:	n/a	n/a
10	EGR1	chr8:91017633-91018279	K562	blood:	n/a	chr8:91018106-91018120
11	JUND	chr8:91017566-91017787	K562	blood:	n/a	n/a
12	RCOR1	chr8:91017605-91018212	K562	blood:	n/a	n/a
13	MXI1	chr8:91017722-91018493	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:91017761-91017811	HepG2	liver:	n/a
2	chr8:91017761-91017811	AG09319	gingival:	n/a
3	chr8:91017761-91017811	SAEC	small airway:	n/a
4	chr8:91017761-91017811	HCF	heart:	n/a
5	chr8:91017761-91017811	GM12891	blood:	n/a
6	chr8:91017761-91017811	BE2_C	brain:	n/a
7	chr8:91017761-91017811	AG04450	lung:	fetal
8	chr8:91017761-91017811	Hela-S3	cervix:	n/a
9	chr8:91017761-91017811	AoSMC	blood vessel:	n/a
10	chr8:91017761-91017811	K562	blood:	n/a
11	chr8:91017761-91017811	MCF-7	breast:	n/a
12	chr8:91017761-91017811	HL-60	blood:	n/a
13	chr8:91017761-91017811	GM06990	blood:	n/a
14	chr8:91017761-91017811	HRPEpiC	eye:	n/a
15	chr8:91017761-91017811	HIPEpiC	eye:	n/a
16	chr8:91017761-91017811	NH-A	brain:	n/a
17	chr8:91017761-91017811	HCT-116	colon:	n/a
18	chr8:91017761-91017811	NHDF-neo	bronchial:	n/a
19	chr8:91017761-91017811	HRE	kidney:	n/a
20	chr8:91017761-91017811	ovcar-3	ovarian:	n/a
21	chr8:91017761-91017811	GM12878	blood:	n/a
22	chr8:91017761-91017811	A549	lung:	n/a
23	chr8:91017761-91017811	SK-N-SH_RA	brain:	n/a
24	chr8:91017761-91017811	MCF10A-Er-Src	breast:	n/a
25	chr8:91017761-91017811	Caco-2	colon:	n/a
26	chr8:91017761-91017811	GM19239	blood:	n/a
27	chr8:91017761-91017811	SK-N-SH	brain:	n/a
28	chr8:91017761-91017811	ProgFib	skin:	n/a
29	chr8:91017761-91017811	HRCEpiC	kidney:	n/a
30	chr8:91017761-91017811	HAEpiC	amniotic membrane:	n/a
31	chr8:91017761-91017811	HUVEC	blood vessel:	n/a
32	chr8:91017761-91017811	NT2-D1	testis:	n/a
33	chr8:91017761-91017811	RPTEC	kidney:	n/a
34	chr8:91017761-91017811	ECC-1	luminal epithelium:	n/a
35	chr8:91017761-91017811	PANC-1	pancreas:	n/a
36	chr8:91017761-91017811	LNCaP	prostate:	n/a
37	chr8:91017761-91017811	BJ	skin:	n/a
38	chr8:91017761-91017811	PFSK-1	brain:	n/a
39	chr8:91017761-91017811	HCPEpiC	choroid plexus:	n/a
40	chr8:91017761-91017811	CMK	blood:	n/a
41	chr8:91017761-91017811	AG04449	skin:	fetal
42	chr8:91017761-91017811	PrEC	prostate:	n/a
43	chr8:91017761-91017811	HMEC	breast:	n/a
44	chr8:91017761-91017811	U87	brain:	n/a
45	chr8:91017761-91017811	GM12892	blood:	n/a
46	chr8:91017761-91017811	HPAEpiC	pulmonary alveolar:	n/a
47	chr8:91017761-91017811	NB4	blood:	n/a
48	chr8:91017761-91017811	NHBE	bronchial:	n/a
49	chr8:91017761-91017811	SK-N-MC	brain:	n/a
50	chr8:91017761-91017811	IMR90	lung:	fetal

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90769284..90770792-chr8:91016368..91018006,2	MCF-7	breast:
2	chr8:90913245..90914861-chr8:91017042..91018822,2	K562	blood:
3	chr8:91012916..91015532-chr8:91016976..91019163,4	K562	blood:
4	chr8:91016481..91019330-chr8:91020288..91024587,4	MCF-7	breast:
5	chr8:91017661..91019638-chr8:91023682..91026247,2	K562	blood:
6	chr8:90738912..90741485-chr8:91017416..91019883,2	K562	blood:
7	chr8:91010711..91015173-chr8:91016537..91023019,10	MCF-7	breast:
8	chr8:91015944..91018143-chr8:91550446..91553140,2	K562	blood:
9	chr8:91017521..91019447-chr8:91254781..91258818,3	MCF-7	breast:
10	chr8:91009932..91012698-chr8:91017026..91019725,2	K562	blood:

No data

Variant related genes	Relation type
NBN	TF binding region
NBN	CpG island
ENSG00000104320	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000104325	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs13312836	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312854	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312860	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312862	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312863	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312864	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312874	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312891	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312931	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2308961	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55663774	1.00[AMR][1000 genomes]
rs55683922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55978729	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56190114	1.00[AMR][1000 genomes]
rs58089706	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59899647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61365155	1.00[AMR][1000 genomes]
rs6987476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694306	1.00[AMR][1000 genomes]
rs73694307	1.00[AMR][1000 genomes]
rs73694313	1.00[AMR][1000 genomes]
rs73694316	1.00[AMR][1000 genomes]
rs73696843	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696845	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696848	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696850	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696851	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs769417	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7823648	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7823987	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv8365	chr8:91014360-91019600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91014600-91017800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:91014600-91018000	Weak transcription	Aorta	Aorta
3	chr8:91014600-91021200	Weak transcription	Gastric	stomach
4	chr8:91014600-91033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:91014800-91018000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:91014800-91018000	Weak transcription	Psoas Muscle	Psoas
8	chr8:91014800-91018000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:91014800-91018200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:91014800-91018800	Weak transcription	Fetal Brain Female	brain
11	chr8:91014800-91022200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:91014800-91022400	Weak transcription	Ovary	ovary
13	chr8:91014800-91031200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:91014800-91031200	Weak transcription	Fetal Brain Male	brain
15	chr8:91014800-91031200	Weak transcription	Placenta	Placenta
16	chr8:91014800-91031400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:91014800-91031400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:91014800-91031400	Weak transcription	Esophagus	oesophagus
19	chr8:91014800-91033800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:91014800-91034200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:91014800-91042400	Weak transcription	Colonic Mucosa	Colon
22	chr8:91015000-91019600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:91015000-91021600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr8:91015000-91024800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:91015000-91031200	Weak transcription	Brain Angular Gyrus	brain
26	chr8:91015000-91031400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:91015200-91018600	Enhancers	HMEC	breast
28	chr8:91015200-91022000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:91015200-91025000	Weak transcription	NHLF	lung
30	chr8:91015400-91017800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr8:91015400-91017800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:91015400-91017800	Weak transcription	Osteobl	bone
33	chr8:91015400-91018400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:91015400-91024800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:91015400-91031200	Weak transcription	HSMMtube	muscle
36	chr8:91015400-91031400	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:91015400-91031400	Weak transcription	Brain Substantia Nigra	brain
38	chr8:91015400-91031400	Weak transcription	Fetal Kidney	kidney
39	chr8:91015600-91020400	Weak transcription	HepG2	liver
40	chr8:91015600-91021600	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:91015600-91021800	Weak transcription	NH-A	brain
42	chr8:91015600-91031200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
44	chr8:91015800-91017800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:91015800-91017800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:91015800-91022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:91015800-91022000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:91015800-91029000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:91015800-91031200	Weak transcription	Brain Anterior Caudate	brain
50	chr8:91015800-91031200	Weak transcription	Rectal Mucosa Donor 29	rectum

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