Variant report

Variant	rs73301742
Chromosome Location	chr8:92081628-92081629
allele	A/T
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	chr8:92076295-92082821	K562	blood:	n/a	n/a
2	TBL1XR1	chr8:92081465-92082852	K562	blood:	n/a	n/a
3	TBP	chr8:92081516-92083027	K562	blood:	n/a	n/a
4	POLR2A	chr8:92081356-92083061	GM19099	blood:	n/a	n/a
5	MXI1	chr8:92081488-92083010	GM12878	blood:	n/a	n/a
6	TBL1XR1	chr8:92081430-92083425	K562	blood:	n/a	n/a
7	MXI1	chr8:92081525-92083044	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr8:92081300-92083057	IMR90	lung:	n/a	n/a
9	SIN3AK20	chr8:92081526-92083276	MCF-7	breast:	n/a	n/a
10	POLR2A	chr8:92081497-92082746	IMR90	lung:	n/a	n/a
11	CUX1	chr8:92081544-92083470	K562	blood:	n/a	n/a
12	SRF	chr8:92081613-92082722	MCF-7	breast:	n/a	n/a
13	GATA3	chr8:92081617-92081733	SH-SY5Y	brain:	n/a	n/a
14	RAD21	chr8:92081369-92082977	IMR90	lung:	n/a	n/a
15	MAX	chr8:92081619-92083134	MCF-7	breast:	n/a	chr8:92082744-92082753
16	NRF1	chr8:92081548-92082997	SK-N-SH	brain:	n/a	chr8:92082423-92082434 chr8:92082420-92082434 chr8:92082422-92082433 chr8:92082423-92082432 chr8:92082423-92082437
17	MXI1	chr8:92080806-92083533	SK-N-SH	brain:	n/a	n/a
18	MAFF	chr8:92081626-92082432	K562	blood:	n/a	chr8:92082304-92082322
19	REST	chr8:92081423-92083088	H1-neurons	neurons:	n/a	chr8:92082426-92082439 chr8:92082049-92082058
20	WRNIP1	chr8:92081384-92082952	GM12878	blood:	n/a	n/a
21	MAX	chr8:92081604-92083199	A549	lung:	n/a	chr8:92082744-92082753
22	RFX5	chr8:92081411-92082505	K562	blood:	n/a	n/a
23	POLR2A	chr8:92080861-92083051	K562	blood:	n/a	n/a
24	GATA1	chr8:92081369-92083522	PBDE	blood:	n/a	chr8:92083128-92083135 chr8:92083128-92083135 chr8:92083124-92083140 chr8:92083129-92083146 chr8:92083121-92083142 chr8:92083128-92083135
25	POLR2A	chr8:92081199-92083518	GM12891	blood:	n/a	n/a
26	ELF1	chr8:92081506-92083035	MCF-7	breast:	n/a	chr8:92082919-92082928 chr8:92081861-92081874 chr8:92082916-92082925
27	GATA2	chr8:92081559-92082898	SH-SY5Y	brain:	n/a	n/a
28	POLR2A	chr8:92081433-92083171	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:92080643-92083498	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr8:92080621-92083089	Hela-S3	cervix:	n/a	n/a
31	CREB1	chr8:92081338-92082862	K562	blood:	n/a	n/a
32	KAP1	chr8:92081608-92082844	HEK293	kidney:	n/a	n/a
33	POLR2A	chr8:92080768-92082968	PBDE	blood:	n/a	n/a
34	MAZ	chr8:92081325-92083424	IMR90	lung:	n/a	chr8:92082744-92082753
35	JUND	chr8:92081305-92083474	K562	blood:	n/a	chr8:92082390-92082399
36	MYC	chr8:92081556-92083675	K562	blood:	n/a	chr8:92082744-92082753
37	EP300	chr8:92081301-92082795	K562	blood:	n/a	n/a
38	MAZ	chr8:92081429-92082991	K562	blood:	n/a	chr8:92082744-92082753
39	TAL1	chr8:92081477-92082873	K562	blood:	n/a	n/a
40	POLR2A	chr8:92081179-92082818	MCF10A-Er-Src	breast:	n/a	n/a
41	HCFC1	chr8:92081313-92083727	Hela-S3	cervix:	n/a	n/a
42	ARID3A	chr8:92081503-92082962	K562	blood:	n/a	chr8:92082124-92082140
43	SIN3AK20	chr8:92081428-92083160	MCF-7	breast:	n/a	n/a
44	POLR2A	chr8:92081621-92082897	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:91994788..91999054-chr8:92079277..92083347,7	K562	blood:
2	chr8:92050064..92053786-chr8:92080232..92083900,8	K562	blood:
3	chr8:92054183..92058700-chr8:92080091..92083007,4	K562	blood:
4	chr8:92049693..92055107-chr8:92080246..92084828,10	MCF-7	breast:
5	chr8:92055125..92057204-chr8:92081507..92083903,2	K562	blood:
6	chr8:91997210..91999385-chr8:92079989..92082119,2	MCF-7	breast:
7	chr8:92051581..92056124-chr8:92079748..92084488,10	MCF-7	breast:
8	chr8:92056146..92058956-chr8:92081154..92084293,3	MCF-7	breast:
9	chr8:91996381..92003775-chr8:92079147..92086022,11	K562	blood:
10	chr8:91982671..91984562-chr8:92080291..92082134,2	K562	blood:

Variant related genes	Relation type
OTUD6B	TF binding region
ENSG00000253250	Chromatin interaction
ENSG00000155099	Chromatin interaction
ENSG00000254219	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10216509	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10956789	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28423010	1.00[AMR][1000 genomes]
rs28444195	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28510966	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6471255	1.00[AMR][1000 genomes]
rs6990212	1.00[AMR][1000 genomes]
rs73301750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301761	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7834012	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9987346	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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92072400-92081800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:92075600-92082200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:92080000-92083600	Active TSS	Right Atrium	heart
4	chr8:92080400-92081800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:92080400-92083400	Active TSS	HMEC	breast
6	chr8:92080400-92083800	Active TSS	K562	blood
7	chr8:92080600-92081800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr8:92080600-92082000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr8:92080600-92082600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:92080600-92084000	Active TSS	Psoas Muscle	Psoas
11	chr8:92080800-92081800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:92080800-92081800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr8:92080800-92083800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr8:92080800-92084000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:92081000-92081800	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr8:92081000-92081800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:92081000-92081800	Flanking Active TSS	Stomach Mucosa	stomach
18	chr8:92081000-92081800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr8:92081000-92083600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:92081000-92083600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:92081000-92083600	Active TSS	Fetal Intestine Large	intestine
22	chr8:92081000-92083800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:92081000-92083800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr8:92081000-92084000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:92081200-92081800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr8:92081200-92081800	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr8:92081200-92082200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:92081200-92082800	Active TSS	Primary T cells fromperipheralblood	blood
29	chr8:92081200-92083200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:92081200-92083200	Active TSS	Colonic Mucosa	Colon
31	chr8:92081200-92083200	Active TSS	Fetal Muscle Leg	muscle
32	chr8:92081200-92083200	Active TSS	Fetal Thymus	thymus
33	chr8:92081200-92083200	Active TSS	Rectal Smooth Muscle	rectum
34	chr8:92081200-92083200	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr8:92081200-92083200	Active TSS	Thymus	Thymus
36	chr8:92081200-92083400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr8:92081200-92083400	Active TSS	Aorta	Aorta
38	chr8:92081200-92083400	Active TSS	Fetal Intestine Small	intestine
39	chr8:92081200-92083400	Active TSS	Ovary	ovary
40	chr8:92081200-92083400	Active TSS	GM12878-XiMat	blood
41	chr8:92081200-92083400	Active TSS	NHDF-Ad	bronchial
42	chr8:92081200-92083400	Active TSS	NHEK	skin
43	chr8:92081200-92083600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr8:92081200-92083600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:92081200-92083600	Active TSS	Muscle Satellite Cultured Cells	--
46	chr8:92081200-92083600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:92081200-92083600	Active TSS	Fetal Muscle Trunk	muscle
48	chr8:92081200-92083600	Active TSS	Fetal Stomach	stomach
49	chr8:92081200-92083600	Active TSS	Right Ventricle	heart
50	chr8:92081200-92083600	Active TSS	A549	lung

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