Variant report

Variant	rs843703
Chromosome Location	chr2:54483443-54483444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB33	chr2:54483147-54483661	K562	blood:	n/a	n/a
2	TAF1	chr2:54483091-54483580	K562	blood:	n/a	n/a
3	POLR2A	chr2:54482401-54483606	K562	blood:	n/a	n/a
4	PML	chr2:54483121-54483656	K562	blood:	n/a	n/a
5	HCFC1	chr2:54483090-54483581	K562	blood:	n/a	n/a
6	ETS1	chr2:54483133-54483658	GM12878	blood:	n/a	n/a
7	MAX	chr2:54482561-54483618	K562	blood:	n/a	n/a
8	JUN	chr2:54483283-54483561	K562	blood:	n/a	n/a
9	TAF1	chr2:54483225-54483509	K562	blood:	n/a	n/a
10	YY1	chr2:54482823-54483542	K562	blood:	n/a	chr2:54483359-54483369 chr2:54483358-54483366 chr2:54483347-54483369
11	CTCF	chr2:54483269-54483590	K562	blood:	n/a	n/a
12	MAZ	chr2:54482841-54483569	K562	blood:	n/a	n/a
13	ZBTB33	chr2:54483166-54483677	K562	blood:	n/a	n/a
14	E2F6	chr2:54482941-54483469	K562	blood:	n/a	n/a
15	NR2F2	chr2:54483012-54483640	K562	blood:	n/a	n/a
16	CBX3	chr2:54483150-54483759	K562	blood:	n/a	n/a
17	POLR2A	chr2:54482934-54483675	K562	blood:	n/a	n/a
18	JUND	chr2:54483146-54483658	K562	blood:	n/a	n/a
19	HEY1	chr2:54482674-54483579	K562	blood:	n/a	n/a
20	SIN3AK20	chr2:54483265-54483552	K562	blood:	n/a	n/a
21	MAFF	chr2:54483261-54483622	K562	blood:	n/a	n/a
22	E2F6	chr2:54482402-54483617	K562	blood:	n/a	n/a
23	HEY1	chr2:54483093-54483648	K562	blood:	n/a	n/a
24	MAX	chr2:54482140-54483669	K562	blood:	n/a	n/a
25	MYC	chr2:54483215-54483587	K562	blood:	n/a	n/a
26	CBX3	chr2:54483260-54483656	K562	blood:	n/a	n/a
27	EGR1	chr2:54483219-54483544	K562	blood:	n/a	n/a
28	TEAD4	chr2:54482985-54483629	K562	blood:	n/a	n/a
29	TRIM28	chr2:54483164-54483698	K562	blood:	n/a	n/a
30	YY1	chr2:54482677-54483500	K562	blood:	n/a	chr2:54483359-54483369 chr2:54483358-54483366 chr2:54483347-54483369
31	POLR2A	chr2:54483121-54483469	K562	blood:	n/a	n/a
32	POLR2A	chr2:54482462-54483508	K562	blood:	n/a	n/a
33	SIN3AK20	chr2:54483241-54483568	K562	blood:	n/a	n/a
34	YY1	chr2:54482406-54483504	K562	blood:	n/a	chr2:54483359-54483369 chr2:54483358-54483366 chr2:54483347-54483369
35	IRF1	chr2:54483176-54483559	K562	blood:	n/a	n/a
36	MYC	chr2:54482574-54483558	K562	blood:	n/a	n/a
37	EGR1	chr2:54483223-54483548	K562	blood:	n/a	n/a
38	POLR2A	chr2:54482504-54483689	K562	blood:	n/a	n/a
39	POLR2A	chr2:54483144-54483637	K562	blood:	n/a	n/a
40	POLR2A	chr2:54483111-54483586	K562	blood:	n/a	n/a
41	CHD2	chr2:54483070-54483827	K562	blood:	n/a	n/a
42	TBL1XR1	chr2:54483207-54483645	K562	blood:	n/a	n/a
43	IRF1	chr2:54483206-54483548	K562	blood:	n/a	n/a
44	MAX	chr2:54483277-54483502	K562	blood:	n/a	n/a
45	POLR2A	chr2:54483032-54483637	K562	blood:	n/a	n/a
46	POLR2A	chr2:54482772-54483632	K562	blood:	n/a	n/a
47	TBP	chr2:54483117-54483654	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54483433-54483483	HCT-116	colon:	n/a
2	chr2:54483433-54483483	MCF-7	breast:	n/a
3	chr2:54483433-54483483	LNCaP	prostate:	n/a
4	chr2:54483433-54483483	ovcar-3	ovarian:	n/a
5	chr2:54483431-54483481	BE2_C	brain:	n/a
6	chr2:54483433-54483483	SAEC	small airway:	n/a
7	chr2:54483433-54483483	K562	blood:	n/a
8	chr2:54483433-54483483	HRCEpiC	kidney:	n/a
9	chr2:54483431-54483481	PFSK-1	brain:	n/a
10	chr2:54483433-54483483	HRPEpiC	eye:	n/a
11	chr2:54483431-54483481	AG04449	skin:	fetal
12	chr2:54483433-54483483	PANC-1	pancreas:	n/a
13	chr2:54483431-54483481	NHBE	bronchial:	n/a
14	chr2:54483433-54483483	BJ	skin:	n/a
15	chr2:54483433-54483483	T-47D	breast:	n/a
16	chr2:54483431-54483481	Hela-S3	cervix:	n/a
17	chr2:54483433-54483483	NHBE	bronchial:	n/a
18	chr2:54483431-54483481	BJ	skin:	n/a
19	chr2:54483433-54483483	GM12892	blood:	n/a
20	chr2:54483433-54483483	HCPEpiC	choroid plexus:	n/a
21	chr2:54483433-54483483	NB4	blood:	n/a
22	chr2:54483431-54483481	HPAEpiC	pulmonary alveolar:	n/a
23	chr2:54483431-54483481	K562	blood:	n/a
24	chr2:54483431-54483481	HCPEpiC	choroid plexus:	n/a
25	chr2:54483431-54483481	CMK	blood:	n/a
26	chr2:54483433-54483483	AG10803	skin:	n/a
27	chr2:54483431-54483481	PrEC	prostate:	n/a
28	chr2:54483433-54483483	H1-hESC	embryonic stem cell:	embryo
29	chr2:54483431-54483481	NH-A	brain:	n/a
30	chr2:54483433-54483483	PrEC	prostate:	n/a
31	chr2:54483433-54483483	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:54483433-54483483	U87	brain:	n/a
33	chr2:54483433-54483483	Hela-S3	cervix:	n/a
34	chr2:54483431-54483481	SK-N-MC	brain:	n/a
35	chr2:54483431-54483481	HRCEpiC	kidney:	n/a
36	chr2:54483431-54483481	T-47D	breast:	n/a
37	chr2:54483433-54483483	Hepatocyte	liver:	n/a
38	chr2:54483431-54483481	HIPEpiC	eye:	n/a
39	chr2:54483433-54483483	ECC-1	luminal epithelium:	n/a
40	chr2:54483431-54483481	GM06990	blood:	n/a
41	chr2:54483431-54483481	H1-hESC	embryonic stem cell:	embryo
42	chr2:54483433-54483483	AG09319	gingival:	n/a
43	chr2:54483431-54483481	AG10803	skin:	n/a
44	chr2:54483433-54483483	A549	lung:	n/a
45	chr2:54483431-54483481	PANC-1	pancreas:	n/a
46	chr2:54483431-54483481	NHDF-neo	bronchial:	n/a
47	chr2:54483433-54483483	HMEC	breast:	n/a
48	chr2:54483433-54483483	HCM	heart:	n/a
49	chr2:54483433-54483483	AG04450	lung:	fetal
50	chr2:54483433-54483483	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54340617..54344494-chr2:54480899..54484108,3	K562	blood:

No data

Variant related genes	Relation type
TSPYL6	TF binding region
TSPYL6	CpG island
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1580432	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2628197	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs698752	0.83[AFR][1000 genomes]
rs698755	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs843647	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs843651	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs843653	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs843654	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs843656	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs843666	0.83[AFR][1000 genomes]
rs843682	0.82[EUR][1000 genomes]
rs843684	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs843685	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs843686	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs843687	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs843688	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs843689	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs843691	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs843692	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs843695	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs843696	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs843697	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs843699	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs843702	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs843705	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs843706	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs843708	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs843709	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs843710	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs843711	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs843738	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs843762	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs843763	0.85[AFR][1000 genomes]
rs860057	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1009828	chr2:54393122-54488721	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv457897	chr2:54459093-54502912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv582012	chr2:54459093-54502912	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1004632	chr2:54469283-54590480	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1011975	chr2:54475866-54495222	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54449800-54535200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:54452800-54490200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:54456400-54487200	Weak transcription	Psoas Muscle	Psoas
4	chr2:54468400-54492200	Weak transcription	HSMMtube	muscle
5	chr2:54474200-54485600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:54474600-54484200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:54479200-54487200	Weak transcription	HepG2	liver
8	chr2:54479200-54489200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:54479800-54489200	Weak transcription	Gastric	stomach
10	chr2:54480400-54485400	Weak transcription	Fetal Lung	lung
11	chr2:54481000-54502600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:54481600-54484200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:54481600-54487200	Weak transcription	Spleen	Spleen
14	chr2:54481800-54483600	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr2:54482000-54483800	Active TSS	K562	blood
16	chr2:54482600-54484600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:54482800-54485200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:54483000-54484600	Weak transcription	Right Ventricle	heart
19	chr2:54483200-54484800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:54483200-54491800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:54483400-54488000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:54483400-54489200	Weak transcription	Fetal Stomach	stomach
23	chr2:54483400-54491200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:54483400-54521200	Weak transcription	Pancreas	Pancrea

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