Variant report

Variant	rs73013596
Chromosome Location	chr6:163834157-163834158
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	chr6:163833865-163837731	GM18505	blood:	n/a	n/a
2	SPI1	chr6:163834086-163834509	GM12891	blood:	n/a	chr6:163834310-163834323
3	POLR2A	chr6:163834058-163835953	HL-60	blood:	n/a	n/a
4	POLR2A	chr6:163833895-163835294	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr6:163834123-163836009	K562	blood:	n/a	n/a
6	ZKSCAN1	chr6:163834077-163834850	Hela-S3	cervix:	n/a	n/a
7	MAX	chr6:163834014-163835325	HepG2	liver:	n/a	chr6:163835111-163835124 chr6:163835113-163835122
8	MYC	chr6:163834091-163835306	K562	blood:	n/a	chr6:163835111-163835124 chr6:163835113-163835122
9	ZMIZ1	chr6:163834008-163835255	K562	blood:	n/a	n/a
10	MYBL2	chr6:163834065-163835309	HepG2	liver:	n/a	n/a
11	ZNF263	chr6:163834101-163835247	HEK293-T-REx	kidney:	n/a	n/a
12	HEY1	chr6:163834128-163835578	HepG2	liver:	n/a	chr6:163835234-163835249 chr6:163834851-163834866
13	POLR2A	chr6:163834145-163835458	GM12892	blood:	n/a	n/a
14	TAL1	chr6:163834027-163835289	K562	blood:	n/a	n/a
15	PML	chr6:163834066-163835277	K562	blood:	n/a	n/a
16	YY1	chr6:163834117-163834531	H1-hESC	embryonic stem cell:	n/a	n/a
17	RELA	chr6:163833909-163836016	GM12891	blood:	n/a	chr6:163834879-163834888 chr6:163834879-163834888
18	SIN3A	chr6:163834086-163835309	H1-hESC	embryonic stem cell:	n/a	chr6:163834441-163834454 chr6:163834616-163834630 chr6:163834834-163834845 chr6:163835112-163835121
19	RCOR1	chr6:163833833-163835293	K562	blood:	n/a	n/a
20	POLR2A	chr6:163833436-163836080	HUVEC	blood vessel:	n/a	n/a
21	SPI1	chr6:163834093-163834568	HL-60	blood:	n/a	chr6:163834310-163834323
22	BHLHE40	chr6:163833621-163835329	GM12878	blood:	n/a	n/a
23	TBP	chr6:163833975-163835953	K562	blood:	n/a	n/a
24	POLR2A	chr6:163833427-163835947	K562	blood:	n/a	n/a
25	MXI1	chr6:163834136-163835326	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:163834016-163836500	H1-neurons	neurons:	n/a	n/a
27	NFIC	chr6:163834138-163835298	GM12878	blood:	n/a	chr6:163834905-163834921
28	POLR2A	chr6:163833399-163835926	GM12891	blood:	n/a	n/a
29	MAX	chr6:163834145-163835919	A549	lung:	n/a	chr6:163835111-163835124 chr6:163835113-163835122
30	POLR2A	chr6:163833218-163836000	MCF10A-Er-Src	breast:	n/a	n/a
31	MAX	chr6:163834021-163836363	K562	blood:	n/a	chr6:163835111-163835124 chr6:163835113-163835122
32	POLR2A	chr6:163834148-163835334	GM12891	blood:	n/a	n/a
33	SPI1	chr6:163834146-163834446	K562	blood:	n/a	chr6:163834310-163834323
34	POLR2A	chr6:163834087-163836038	HL-60	blood:	n/a	n/a
35	RELA	chr6:163834130-163835842	GM19099	blood:	n/a	chr6:163834879-163834888 chr6:163834879-163834888
36	MXI1	chr6:163833200-163838755	SK-N-SH	brain:	n/a	n/a
37	CREB1	chr6:163833989-163835325	K562	blood:	n/a	n/a
38	JUND	chr6:163833939-163835279	K562	blood:	n/a	n/a
39	POLR2A	chr6:163834147-163836087	GM12892	blood:	n/a	n/a
40	BACH1	chr6:163833884-163835210	K562	blood:	n/a	n/a
41	RCOR1	chr6:163834018-163835247	K562	blood:	n/a	n/a
42	POLR2A	chr6:163833945-163836424	GM18526	blood:	n/a	n/a
43	MYBL2	chr6:163833554-163835285	HepG2	liver:	n/a	n/a
44	POLR2A	chr6:163833240-163835966	HepG2	liver:	n/a	n/a
45	HEY1	chr6:163833989-163836017	K562	blood:	n/a	chr6:163835234-163835249 chr6:163834851-163834866 chr6:163835759-163835774
46	TEAD4	chr6:163833769-163834443	HepG2	liver:	n/a	chr6:163834122-163834131
47	POLR2A	chr6:163834145-163837397	GM12892	blood:	n/a	n/a
48	MAX	chr6:163834122-163836415	HepG2	liver:	n/a	chr6:163835111-163835124 chr6:163835113-163835122
49	POLR2A	chr6:163833238-163835960	MCF10A-Er-Src	breast:	n/a	n/a
50	MYC	chr6:163833941-163837264	K562	blood:	n/a	chr6:163837085-163837095 chr6:163835111-163835124 chr6:163835113-163835122 chr6:163836739-163836748

No.	Distal block	Cell Line	Cell type
1	chr6:163832712..163834333-chr6:164408971..164410917,2	K562	blood:
2	chr6:163833988..163836212-chr6:163848529..163850044,2	MCF-7	breast:
3	chr6:163707215..163709135-chr6:163832836..163834940,2	MCF-7	breast:
4	chr6:163832850..163838270-chr6:163950827..163956360,5	K562	blood:

Variant related genes	Relation type
QKI	TF binding region
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11964059	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56098044	0.97[EUR][1000 genomes]
rs57325238	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59777232	0.97[EUR][1000 genomes]
rs73017335	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73021403	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73021406	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73021501	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7739152	0.97[EUR][1000 genomes]
rs7752293	0.97[EUR][1000 genomes]
rs7754132	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7755889	0.97[EUR][1000 genomes]
rs7756950	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7760526	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1791729	chr6:163814557-163836689	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1839403	chr6:163822296-163835490	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1793461	chr6:163822296-163836634	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1794611	chr6:163822296-163836689	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1796475	chr6:163822296-163836689	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1797016	chr6:163822296-163836689	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv1801202	chr6:163822296-163836689	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv1801861	chr6:163822296-163836689	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv605193	chr6:163824864-163835490	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv605194	chr6:163824864-163836293	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv605195	chr6:163824864-163836634	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv3388703	chr6:163833387-163836135	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3335151	chr6:163833462-163838560	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv3439007	chr6:163833987-163837835	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv1797109	chr6:163834147-163908115	Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163827200-163834200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:163827200-163834200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:163827200-163834200	Weak transcription	Spleen	Spleen
4	chr6:163831200-163834200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:163832600-163834200	Weak transcription	Gastric	stomach
6	chr6:163832600-163841400	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr6:163832800-163835200	Active TSS	Brain Hippocampus Middle	brain
8	chr6:163833000-163837200	Active TSS	Brain Cingulate Gyrus	brain
9	chr6:163833000-163843400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr6:163833200-163835200	Active TSS	A549	lung
11	chr6:163833200-163836200	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr6:163833200-163837200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:163833200-163841000	Active TSS	Fetal Muscle Leg	muscle
14	chr6:163833200-163842000	Active TSS	HSMMtube	muscle
15	chr6:163833400-163834200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr6:163833400-163834200	Active TSS	Colonic Mucosa	Colon
17	chr6:163833400-163834200	Flanking Active TSS	Fetal Lung	lung
18	chr6:163833400-163834400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr6:163833400-163834400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:163833400-163834400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:163833400-163834400	Active TSS	Fetal Brain Male	brain
22	chr6:163833400-163834400	Flanking Active TSS	HUVEC	blood vessel
23	chr6:163833400-163834600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:163833400-163834600	ZNF genes & repeats	Fetal Heart	heart
25	chr6:163833400-163834800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr6:163833400-163834800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:163833400-163835000	Active TSS	Brain Substantia Nigra	brain
28	chr6:163833400-163835400	Active TSS	Brain Angular Gyrus	brain
29	chr6:163833400-163835600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:163833400-163836200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:163833400-163838600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:163833400-163838600	Active TSS	Fetal Kidney	kidney
33	chr6:163833400-163838800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr6:163833400-163839400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr6:163833400-163839400	Active TSS	NH-A	brain
36	chr6:163833400-163839600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:163833400-163839800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:163833400-163839800	Active TSS	Fetal Muscle Trunk	muscle
39	chr6:163833400-163840400	Active TSS	Fetal Brain Female	brain
40	chr6:163833400-163840600	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr6:163833400-163841400	Active TSS	Stomach Smooth Muscle	stomach
42	chr6:163833400-163841400	Active TSS	NHLF	lung
43	chr6:163833400-163843600	Active TSS	Right Ventricle	heart
44	chr6:163833600-163834200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr6:163833600-163834200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr6:163833600-163834200	Flanking Active TSS	HMEC	breast
47	chr6:163833600-163834400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr6:163833600-163834400	Bivalent/Poised TSS	Fetal Thymus	thymus
49	chr6:163833600-163834400	Active TSS	Right Atrium	heart
50	chr6:163833600-163834400	Flanking Active TSS	Osteobl	bone

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