Variant report

Variant	rs73242942
Chromosome Location	chr8:66752810-66752811
allele	A/G
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	chr8:66752331-66755723	GM12878	blood:	n/a	n/a
2	CHD1	chr8:66752809-66753719	H1-hESC	embryonic stem cell:	n/a	n/a
3	SMC3	chr8:66752802-66752928	GM12878	blood:	n/a	n/a
4	GTF2F1	chr8:66752600-66753198	Hela-S3	cervix:	n/a	n/a
5	IRF1	chr8:66752731-66753280	K562	blood:	n/a	chr8:66753003-66753017 chr8:66752814-66752830 chr8:66753003-66753015
6	STAT5A	chr8:66752421-66753786	GM12878	blood:	n/a	chr8:66753018-66753026 chr8:66753440-66753448
7	POLR2A	chr8:66752760-66755625	GM12892	blood:	n/a	n/a
8	POLR2A	chr8:66752610-66755499	GM12878	blood:	n/a	n/a
9	RFX5	chr8:66752650-66753258	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr8:66751976-66755639	SK-N-SH	brain:	n/a	chr8:66754830-66754845
11	POLR2A	chr8:66752787-66755353	GM12878	blood:	n/a	n/a
12	CEBPB	chr8:66752542-66753388	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr8:66752753-66755770	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr8:66752577-66755734	H1-neurons	neurons:	n/a	chr8:66753801-66753814 chr8:66752614-66752623 chr8:66753166-66753176
15	POLR2A	chr8:66752534-66755736	GM12891	blood:	n/a	n/a
16	CHD1	chr8:66752651-66755350	GM12878	blood:	n/a	n/a
17	MTA3	chr8:66752772-66753719	GM12878	blood:	n/a	n/a
18	RELA	chr8:66752803-66755364	GM12891	blood:	n/a	n/a
19	WRNIP1	chr8:66752755-66753644	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:66695473..66703733-chr8:66751774..66756006,10	K562	blood:
2	chr8:66752746..66756404-chr8:66931747..66936511,11	MCF-7	breast:
3	chr8:66739522..66741697-chr8:66751069..66753094,2	K562	blood:
4	chr8:66752587..66755352-chr8:66933051..66936501,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272192	TF binding region
PDE7A	TF binding region
ENSG00000205268	Chromatin interaction
ENSG00000147570	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11992833	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs16932340	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs57416148	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs57759707	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs58156571	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs59812763	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73240781	1.00[EUR][1000 genomes]
rs73240793	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73242914	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73242917	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73242921	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73242933	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73242949	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73242959	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73242967	0.86[EUR][1000 genomes]
rs7463008	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers 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
2	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66745200-66753000	Weak transcription	Gastric	stomach
2	chr8:66748000-66754600	Active TSS	Primary T cells fromperipheralblood	blood
3	chr8:66748200-66755800	Active TSS	Thymus	Thymus
4	chr8:66749000-66753000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:66749200-66755200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:66749600-66755000	Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr8:66749600-66755000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr8:66749800-66755000	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr8:66750000-66753400	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr8:66750200-66754400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:66750400-66753000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:66750800-66755000	Active TSS	GM12878-XiMat	blood
13	chr8:66751000-66755200	Active TSS	Right Atrium	heart
14	chr8:66751000-66755600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr8:66751200-66754400	Active TSS	HMEC	breast
16	chr8:66751200-66754800	Active TSS	Fetal Thymus	thymus
17	chr8:66751200-66755200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:66751200-66755200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr8:66751200-66755200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:66751200-66755400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr8:66751400-66753200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:66751400-66755000	Active TSS	Dnd41	blood
23	chr8:66751400-66755800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr8:66751800-66753000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr8:66751800-66755000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:66751800-66755200	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr8:66751800-66755200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:66751800-66755200	Active TSS	K562	blood
29	chr8:66751800-66755400	Active TSS	NHDF-Ad	bronchial
30	chr8:66752000-66753000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:66752000-66753200	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr8:66752000-66755000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr8:66752000-66755000	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr8:66752000-66755000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:66752000-66755000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:66752000-66755000	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr8:66752000-66755000	Active TSS	Hela-S3	cervix
38	chr8:66752000-66755000	Active TSS	NHLF	lung
39	chr8:66752000-66755200	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr8:66752000-66755400	Active TSS	H1 Cell Line	embryonic stem cell
41	chr8:66752000-66755400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:66752200-66753000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:66752200-66753000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:66752200-66753600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr8:66752200-66753800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:66752200-66754000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr8:66752200-66754800	Active TSS	NHEK	skin
48	chr8:66752200-66755000	Active TSS	Primary T cells from cord blood	blood
49	chr8:66752200-66755000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:66752200-66755000	Active TSS	A549	lung

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