Variant report

Variant	rs73639568
Chromosome Location	chr9:6006927-6006928
allele	C/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	BCL3	chr9:6006752-6007498	A549	lung:	n/a	chr9:6007097-6007106
2	POLR2A	chr9:6006777-6007341	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr9:6006891-6007617	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr9:6006836-6007354	A549	lung:	n/a	n/a
5	MAX	chr9:6006752-6007285	K562	blood:	n/a	n/a
6	TAF1	chr9:6006777-6007221	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr9:6006692-6008998	Hela-S3	cervix:	n/a	n/a
8	STAT1	chr9:6006920-6007131	GM12878	blood:	n/a	n/a
9	MAX	chr9:6006785-6007534	MCF-7	breast:	n/a	n/a
10	USF1	chr9:6006901-6007286	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr9:6006832-6007342	Hela-S3	cervix:	n/a	n/a
12	RCOR1	chr9:6006768-6007405	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr9:6006866-6007584	HUVEC	blood vessel:	n/a	n/a
14	HCFC1	chr9:6006627-6009015	Hela-S3	cervix:	n/a	n/a
15	TCF12	chr9:6006793-6007631	A549	lung:	n/a	n/a
16	RAD21	chr9:6006816-6007211	SK-N-SH_RA	brain:	n/a	chr9:6007100-6007110
17	E2F4	chr9:6006867-6007239	MCF10A-Er-Src	breast:	n/a	n/a
18	RFX5	chr9:6006691-6007367	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr9:6006849-6008803	K562	blood:	n/a	n/a
20	POLR2A	chr9:6006851-6008935	NB4	blood:	n/a	n/a
21	MAX	chr9:6006924-6008855	GM12878	blood:	n/a	chr9:6008187-6008197 chr9:6007888-6007898 chr9:6007990-6008000 chr9:6008504-6008514
22	RAD21	chr9:6006899-6007145	SK-N-SH_RA	brain:	n/a	chr9:6007100-6007110
23	MXI1	chr9:6006563-6008946	IMR90	lung:	n/a	n/a
24	MAX	chr9:6006898-6007523	HepG2	liver:	n/a	n/a
25	MAX	chr9:6006718-6008783	K562	blood:	n/a	chr9:6008187-6008197 chr9:6007888-6007898 chr9:6007990-6008000 chr9:6008504-6008514
26	MAX	chr9:6006788-6008885	HepG2	liver:	n/a	chr9:6008187-6008197 chr9:6007888-6007898 chr9:6007990-6008000 chr9:6008504-6008514
27	SIN3AK20	chr9:6006860-6007749	H1-hESC	embryonic stem cell:	n/a	n/a
28	CCNT2	chr9:6006900-6007494	K562	blood:	n/a	n/a
29	TCF12	chr9:6006785-6007421	ECC-1	luminal epithelium:	n/a	n/a
30	CREB1	chr9:6006903-6007302	A549	lung:	n/a	n/a
31	BHLHE40	chr9:6006872-6008028	HepG2	liver:	n/a	n/a
32	ELK1	chr9:6006926-6007156	GM12878	blood:	n/a	n/a
33	CREB1	chr9:6006802-6008837	GM12878	blood:	n/a	n/a
34	GTF2F1	chr9:6006815-6007332	Hela-S3	cervix:	n/a	n/a
35	MAX	chr9:6006657-6008774	A549	lung:	n/a	chr9:6008187-6008197 chr9:6007888-6007898 chr9:6007990-6008000 chr9:6008504-6008514
36	MXI1	chr9:6005845-6009194	SK-N-SH	brain:	n/a	n/a
37	EGR1	chr9:6006923-6007213	K562	blood:	n/a	chr9:6007039-6007049
38	MAZ	chr9:6006870-6008859	K562	blood:	n/a	chr9:6008187-6008197 chr9:6007888-6007898 chr9:6007990-6008000 chr9:6008504-6008514
39	MAX	chr9:6006633-6007531	SK-N-SH	brain:	n/a	n/a
40	MAFK	chr9:6006906-6007544	Hela-S3	cervix:	n/a	chr9:6007078-6007093
41	MAX	chr9:6006664-6008055	ECC-1	luminal epithelium:	n/a	chr9:6007888-6007898 chr9:6007990-6008000
42	CHD2	chr9:6006816-6008813	Hela-S3	cervix:	n/a	chr9:6008497-6008507 chr9:6008179-6008189 chr9:6007985-6007995
43	SIN3AK20	chr9:6006890-6007367	PANC-1	pancreas:	n/a	n/a
44	HDAC2	chr9:6006898-6007401	HepG2	liver:	n/a	chr9:6007033-6007052
45	BRCA1	chr9:6006853-6007174	Hela-S3	cervix:	n/a	n/a
46	USF1	chr9:6006895-6007386	K562	blood:	n/a	n/a
47	MAX	chr9:6006789-6007735	HepG2	liver:	n/a	n/a
48	MAX	chr9:6006720-6007648	ECC-1	luminal epithelium:	n/a	n/a
49	MYC	chr9:6006764-6008889	NB4	blood:	n/a	chr9:6008187-6008197 chr9:6007888-6007898 chr9:6007990-6008000 chr9:6008504-6008514
50	MXI1	chr9:6006787-6008904	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:2015281..2016857-chr9:6006319..6008670,2	K562	blood:
2	chr9:5967488..5970171-chr9:6006384..6008559,2	K562	blood:
3	chr9:5827878..5830835-chr9:6005826..6008939,3	MCF-7	breast:
4	chr9:6006778..6010531-chr9:6011866..6018012,11	MCF-7	breast:

Variant related genes	Relation type
MIR4665	TF binding region
ENSG00000080503	Chromatin interaction
ENSG00000183354	Chromatin interaction
ENSG00000099219	Chromatin interaction
ENSG00000137040	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10116214	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10125832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10975350	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10975351	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10975362	1.00[EUR][1000 genomes]
rs10975363	1.00[EUR][1000 genomes]
rs10975364	1.00[EUR][1000 genomes]
rs10975367	0.92[ASN][1000 genomes]
rs10975372	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10975377	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11506678	1.00[EUR][1000 genomes]
rs11793956	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12337300	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337790	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12339713	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12339886	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12339889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12340153	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12340531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12341021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12342166	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342282	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343325	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12351533	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352918	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1411949	1.00[EUR][1000 genomes]
rs1993912	0.91[AMR][1000 genomes]
rs28431078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28706504	1.00[EUR][1000 genomes]
rs386775	1.00[EUR][1000 genomes]
rs57154492	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58291302	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60037728	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7022080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029847	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383109	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383113	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383114	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383144	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73385128	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73387085	0.83[AMR][1000 genomes]
rs73389036	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73639554	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7853706	0.91[AMR][1000 genomes]
rs7854980	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7858084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7858846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7874032	1.00[ASN][1000 genomes]
rs7875607	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9299025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv892155	chr9:5825768-6044937	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv892156	chr9:5892375-6011757	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1015450	chr9:5915640-6114652	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' 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	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5977400-6007000	Weak transcription	Spleen	Spleen
2	chr9:5999600-6007000	Weak transcription	Lung	lung
3	chr9:6005600-6007000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:6005600-6007000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:6005600-6007200	Weak transcription	Small Intestine	intestine
6	chr9:6005600-6007400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:6005600-6009200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr9:6005800-6007000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:6005800-6007000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr9:6005800-6007000	Enhancers	Stomach Mucosa	stomach
11	chr9:6005800-6007000	Flanking Active TSS	HUVEC	blood vessel
12	chr9:6005800-6007200	Flanking Active TSS	Fetal Brain Male	brain
13	chr9:6005800-6007600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:6005800-6009000	Active TSS	Ovary	ovary
15	chr9:6006000-6007000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr9:6006000-6007000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr9:6006000-6007000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr9:6006000-6007000	Flanking Active TSS	Fetal Lung	lung
19	chr9:6006000-6007000	Flanking Active TSS	Osteobl	bone
20	chr9:6006000-6007400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr9:6006000-6007400	Flanking Active TSS	Dnd41	blood
22	chr9:6006000-6007600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr9:6006000-6007600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr9:6006000-6007800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr9:6006000-6008800	Active TSS	NHDF-Ad	bronchial
26	chr9:6006000-6009000	Active TSS	Right Ventricle	heart
27	chr9:6006000-6009200	Active TSS	Psoas Muscle	Psoas
28	chr9:6006000-6009200	Active TSS	Right Atrium	heart
29	chr9:6006200-6007000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr9:6006200-6007000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr9:6006200-6007000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr9:6006200-6007000	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr9:6006200-6007000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr9:6006200-6007400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:6006200-6007600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr9:6006200-6007600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:6006200-6007600	Flanking Active TSS	Liver	Liver
38	chr9:6006200-6008600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr9:6006200-6008600	Active TSS	HMEC	breast
40	chr9:6006200-6009000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:6006200-6009000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:6006200-6009200	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr9:6006200-6009200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:6006200-6009200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr9:6006200-6009200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:6006200-6009200	Active TSS	Fetal Thymus	thymus
47	chr9:6006200-6009400	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr9:6006200-6009400	Active TSS	K562	blood
49	chr9:6006400-6007000	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr9:6006400-6007000	Active TSS	Fetal Muscle Leg	muscle

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