Variant report

Variant	rs201296387
Chromosome Location	chr6:163833940-163833941
allele	-/ATAGTGCCTTC
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	POLR2A	chr6:163833895-163835294	PANC-1	pancreas:	n/a	n/a
3	HEY1	chr6:163833392-163833982	HepG2	liver:	n/a	n/a
4	RELA	chr6:163833909-163836016	GM12891	blood:	n/a	chr6:163834879-163834888 chr6:163834879-163834888
5	RCOR1	chr6:163833833-163835293	K562	blood:	n/a	n/a
6	POLR2A	chr6:163833436-163836080	HUVEC	blood vessel:	n/a	n/a
7	BHLHE40	chr6:163833621-163835329	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:163833427-163835947	K562	blood:	n/a	n/a
9	POLR2A	chr6:163833399-163835926	GM12891	blood:	n/a	n/a
10	POLR2A	chr6:163833218-163836000	MCF10A-Er-Src	breast:	n/a	n/a
11	MXI1	chr6:163833200-163838755	SK-N-SH	brain:	n/a	n/a
12	JUND	chr6:163833939-163835279	K562	blood:	n/a	n/a
13	BACH1	chr6:163833884-163835210	K562	blood:	n/a	n/a
14	MYBL2	chr6:163833554-163835285	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:163833240-163835966	HepG2	liver:	n/a	n/a
16	TEAD4	chr6:163833769-163834443	HepG2	liver:	n/a	chr6:163834122-163834131
17	POLR2A	chr6:163833238-163835960	MCF10A-Er-Src	breast:	n/a	n/a
18	MXI1	chr6:163833677-163835516	IMR90	lung:	n/a	n/a
19	POLR2A	chr6:163833495-163836403	K562	blood:	n/a	n/a
20	POLR2A	chr6:163833419-163836423	IMR90	lung:	n/a	n/a
21	TEAD4	chr6:163833862-163835325	K562	blood:	n/a	chr6:163834122-163834131
22	CEBPB	chr6:163833449-163834753	K562	blood:	n/a	n/a
23	EP300	chr6:163833774-163835316	K562	blood:	n/a	chr6:163835287-163835296
24	POLR2A	chr6:163833817-163835273	HUVEC	blood vessel:	n/a	n/a
25	CREB1	chr6:163833725-163835360	K562	blood:	n/a	n/a
26	RFX5	chr6:163833763-163835162	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr6:163833063-163835297	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:163833388-163836036	HepG2	liver:	n/a	n/a
29	CCNT2	chr6:163833862-163837213	K562	blood:	n/a	chr6:163837081-163837090
30	MYC	chr6:163833897-163834809	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr6:163833450-163836087	GM12878	blood:	n/a	n/a
32	ARID3A	chr6:163833393-163835195	HepG2	liver:	n/a	n/a
33	CEBPB	chr6:163833837-163834672	HepG2	liver:	n/a	n/a
34	SPI1	chr6:163833800-163834598	GM12878	blood:	n/a	chr6:163834310-163834323
35	POLR2A	chr6:163833138-163835867	K562	blood:	n/a	n/a
36	IRF1	chr6:163833862-163835207	K562	blood:	n/a	chr6:163835050-163835064
37	POLR2A	chr6:163833865-163836407	GM12878	blood:	n/a	n/a
38	TBL1XR1	chr6:163833826-163835207	K562	blood:	n/a	n/a
39	ATF2	chr6:163833939-163834675	GM12878	blood:	n/a	n/a
40	MAFK	chr6:163833456-163834774	K562	blood:	n/a	chr6:163834302-163834313 chr6:163834300-163834314
41	CTCF	chr6:163833657-163834501	K562	blood:	n/a	n/a
42	REST	chr6:163833817-163836898	H1-neurons	neurons:	n/a	chr6:163834612-163834630 chr6:163834611-163834631 chr6:163836632-163836645 chr6:163834611-163834631 chr6:163834614-163834627 chr6:163834611-163834631
43	POLR2A	chr6:163833771-163835314	PBDE	blood:	n/a	n/a
44	POLR2A	chr6:163833936-163836038	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr6:163833883-163835998	K562	blood:	n/a	n/a
46	POLR2A	chr6:163833646-163836484	K562	blood:	n/a	n/a
47	E2F4	chr6:163833803-163835214	MCF10A-Er-Src	breast:	n/a	chr6:163835077-163835086 chr6:163834818-163834830
48	MYC	chr6:163833894-163835896	K562	blood:	n/a	chr6:163835111-163835124 chr6:163835113-163835122
49	SMC3	chr6:163833892-163834939	Hela-S3	cervix:	n/a	n/a
50	MAZ	chr6:163833845-163838257	IMR90	lung:	n/a	chr6:163837085-163837095 chr6:163835111-163835124 chr6:163835113-163835122 chr6:163836739-163836748

No.	Distal block	Cell Line	Cell type
1	chr6:163725918..163727720-chr6:163831906..163834070,2	K562	blood:
2	chr6:163832712..163834333-chr6:164408971..164410917,2	K562	blood:
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: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

Chromatin state (count:119 , 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	chr6:163832600-163834000	Weak transcription	Lung	lung
6	chr6:163832600-163834200	Weak transcription	Gastric	stomach
7	chr6:163832600-163841400	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr6:163832800-163834000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:163832800-163835200	Active TSS	Brain Hippocampus Middle	brain
10	chr6:163833000-163837200	Active TSS	Brain Cingulate Gyrus	brain
11	chr6:163833000-163843400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr6:163833200-163835200	Active TSS	A549	lung
13	chr6:163833200-163836200	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr6:163833200-163837200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:163833200-163841000	Active TSS	Fetal Muscle Leg	muscle
16	chr6:163833200-163842000	Active TSS	HSMMtube	muscle
17	chr6:163833400-163834000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr6:163833400-163834000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr6:163833400-163834000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:163833400-163834000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr6:163833400-163834000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr6:163833400-163834000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:163833400-163834000	Flanking Active TSS	GM12878-XiMat	blood
24	chr6:163833400-163834200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr6:163833400-163834200	Active TSS	Colonic Mucosa	Colon
26	chr6:163833400-163834200	Flanking Active TSS	Fetal Lung	lung
27	chr6:163833400-163834400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr6:163833400-163834400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:163833400-163834400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:163833400-163834400	Active TSS	Fetal Brain Male	brain
31	chr6:163833400-163834400	Flanking Active TSS	HUVEC	blood vessel
32	chr6:163833400-163834600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:163833400-163834600	ZNF genes & repeats	Fetal Heart	heart
34	chr6:163833400-163834800	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr6:163833400-163834800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:163833400-163835000	Active TSS	Brain Substantia Nigra	brain
37	chr6:163833400-163835400	Active TSS	Brain Angular Gyrus	brain
38	chr6:163833400-163835600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:163833400-163836200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:163833400-163838600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:163833400-163838600	Active TSS	Fetal Kidney	kidney
42	chr6:163833400-163838800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr6:163833400-163839400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr6:163833400-163839400	Active TSS	NH-A	brain
45	chr6:163833400-163839600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:163833400-163839800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:163833400-163839800	Active TSS	Fetal Muscle Trunk	muscle
48	chr6:163833400-163840400	Active TSS	Fetal Brain Female	brain
49	chr6:163833400-163840600	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr6:163833400-163841400	Active TSS	Stomach Smooth Muscle	stomach

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