Variant report

Variant	rs533651011
Chromosome Location	chr6:33588660-33588661
allele	A/C
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	chr6:33587814-33588686	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:33587972-33589359	PANC-1	pancreas:	n/a	n/a
3	NFIC	chr6:33588009-33589147	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr6:33588547-33589747	GM18526	blood:	n/a	n/a
5	CTCF	chr6:33588535-33588977	K562	blood:	n/a	n/a
6	POLR2A	chr6:33587950-33590165	Hela-S3	cervix:	n/a	n/a
7	E2F6	chr6:33588573-33589298	A549	lung:	n/a	chr6:33588697-33588711 chr6:33588700-33588714 chr6:33588764-33588774 chr6:33589058-33589067 chr6:33588983-33588994
8	CEBPB	chr6:33588361-33588727	IMR90	lung:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
9	MAX	chr6:33588051-33590088	ECC-1	luminal epithelium:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
10	TAF1	chr6:33588651-33589329	ECC-1	luminal epithelium:	n/a	n/a
11	TFAP2A	chr6:33587780-33589508	Hela-S3	cervix:	n/a	chr6:33587936-33587950 chr6:33587938-33587948 chr6:33587936-33587950 chr6:33587938-33587948 chr6:33588821-33588836 chr6:33587938-33587948 chr6:33588733-33588744 chr6:33587938-33587948
12	POLR2A	chr6:33587666-33589182	U87	brain:	n/a	n/a
13	FOS	chr6:33588333-33588685	MCF10A-Er-Src	breast:	n/a	n/a
14	TCF12	chr6:33587908-33588692	ECC-1	luminal epithelium:	n/a	n/a
15	STAT3	chr6:33588437-33588983	MCF10A-Er-Src	breast:	n/a	chr6:33588551-33588559
16	POLR2A	chr6:33587996-33590038	MCF10A-Er-Src	breast:	n/a	n/a
17	ELF1	chr6:33588498-33590171	GM12878	blood:	n/a	chr6:33588664-33588676 chr6:33589194-33589206
18	MAX	chr6:33588477-33589985	MCF-7	breast:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
19	CEBPB	chr6:33588359-33588710	HepG2	liver:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
20	TEAD4	chr6:33587973-33588789	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr6:33588532-33589659	HCT-116	colon:	n/a	n/a
22	MYC	chr6:33588512-33589286	A549	lung:	n/a	chr6:33589001-33589011
23	RUNX3	chr6:33588410-33589246	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr6:33588392-33589771	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr6:33588634-33590013	MCF-7	breast:	n/a	n/a
26	SMARCC1	chr6:33586961-33588673	Hela-S3	cervix:	n/a	n/a
27	E2F6	chr6:33588519-33589438	K562	blood:	n/a	chr6:33588697-33588711 chr6:33588700-33588714 chr6:33588764-33588774 chr6:33589058-33589067 chr6:33588983-33588994
28	MAX	chr6:33587836-33590117	Hela-S3	cervix:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
29	POLR2A	chr6:33588613-33589972	GM12878	blood:	n/a	n/a
30	EP300	chr6:33588645-33588967	GM12878	blood:	n/a	chr6:33588705-33588721
31	HDAC2	chr6:33588478-33589181	K562	blood:	n/a	chr6:33588486-33588500 chr6:33588488-33588502
32	RCOR1	chr6:33588581-33588979	K562	blood:	n/a	n/a
33	TCF3	chr6:33588620-33589117	GM12878	blood:	n/a	n/a
34	MAX	chr6:33587927-33589931	A549	lung:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
35	POLR2A	chr6:33588478-33589224	K562	blood:	n/a	n/a
36	POLR2A	chr6:33588499-33589833	GM19193	blood:	n/a	n/a
37	POLR2A	chr6:33588572-33588741	A549	lung:	n/a	n/a
38	E2F6	chr6:33588159-33589967	K562	blood:	n/a	chr6:33589769-33589778 chr6:33588697-33588711 chr6:33588700-33588714 chr6:33589542-33589552 chr6:33588764-33588774 chr6:33589545-33589555 chr6:33589058-33589067 chr6:33588412-33588429 chr6:33588983-33588994
39	SIN3A	chr6:33587857-33590046	H1-hESC	embryonic stem cell:	n/a	chr6:33587958-33587971 chr6:33589849-33589857 chr6:33588670-33588681 chr6:33587966-33587974
40	MXI1	chr6:33588622-33589842	GM12878	blood:	n/a	chr6:33589775-33589784
41	POLR2A	chr6:33588580-33589714	GM10847	blood:	n/a	n/a
42	TEAD4	chr6:33588338-33588677	K562	blood:	n/a	n/a
43	POLR2A	chr6:33588482-33589244	NB4	blood:	n/a	n/a
44	POLR2A	chr6:33587672-33589176	U87	brain:	n/a	n/a
45	CEBPB	chr6:33588174-33588710	ECC-1	luminal epithelium:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
46	MAX	chr6:33587775-33590168	HCT-116	colon:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
47	TAL1	chr6:33588608-33589043	K562	blood:	n/a	n/a
48	POLR2A	chr6:33588364-33589829	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr6:33588571-33589338	A549	lung:	n/a	n/a
50	ZBTB7A	chr6:33587872-33588689	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33546546..33549178-chr6:33588334..33590241,2	K562	blood:
2	chr6:33587976..33588692-chr7:152372698..152373478,2	Hela-S3	cervix:
3	chr18:18691523..18692461-chr6:33588062..33589054,2	Hela-S3	cervix:
4	chr12:77458598..77459505-chr6:33588247..33588790,2	Hela-S3	cervix:
5	chr17:56735246..56737826-chr6:33586590..33589099,2	MCF-7	breast:
6	chr6:33587172..33590152-chr6:34203876..34205466,2	K562	blood:
7	chr19:11491411..11492183-chr6:33588219..33588815,2	Hela-S3	cervix:
8	chr6:33550022..33555745-chr6:33586647..33590467,5	MCF-7	breast:
9	chr6:33551460..33554975-chr6:33588078..33592105,4	K562	blood:
10	chr14:75745307..75745924-chr6:33588441..33589108,2	Hela-S3	cervix:
11	chr1:93544219..93545082-chr6:33588370..33589018,2	Hela-S3	cervix:
12	chr6:33382580..33384156-chr6:33587956..33590051,2	K562	blood:
13	chr1:155231631..155232403-chr6:33588518..33589463,2	Hela-S3	cervix:
14	chr6:33587667..33592228-chr6:33677016..33679936,5	MCF-7	breast:

Variant related genes	Relation type
ITPR3	TF binding region
ENSG00000170345	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000030110	Chromatin interaction
ENSG00000204188	Chromatin interaction
ENSG00000196584	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000067900	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000165891	Chromatin interaction
ENSG00000187266	Chromatin interaction
ENSG00000137288	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
3	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv3321796	chr6:33587999-33590547	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33587200-33589000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:33587600-33589000	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr6:33587600-33589000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
4	chr6:33587600-33590000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:33587600-33590000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr6:33587600-33590200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:33587800-33589000	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr6:33587800-33589000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
9	chr6:33587800-33589200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:33587800-33589200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:33587800-33589200	Active TSS	Brain Hippocampus Middle	brain
12	chr6:33587800-33589200	Active TSS	Psoas Muscle	Psoas
13	chr6:33587800-33589400	Active TSS	Colon Smooth Muscle	Colon
14	chr6:33587800-33589400	Active TSS	Rectal Smooth Muscle	rectum
15	chr6:33587800-33589400	Active TSS	Right Atrium	heart
16	chr6:33587800-33589600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:33587800-33589600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:33587800-33589600	Active TSS	Placenta Amnion	Placenta Amnion
19	chr6:33587800-33589800	Active TSS	Ovary	ovary
20	chr6:33587800-33590000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr6:33587800-33590000	Active TSS	Pancreas	Pancrea
22	chr6:33587800-33590400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr6:33587800-33590400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr6:33587800-33590400	Active TSS	NH-A	brain
25	chr6:33587800-33590600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:33588000-33588800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:33588000-33588800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:33588000-33588800	Bivalent/Poised TSS	Fetal Brain Female	brain
29	chr6:33588000-33589000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
30	chr6:33588000-33589000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:33588000-33589000	Flanking Active TSS	Liver	Liver
32	chr6:33588000-33589200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:33588000-33589400	Active TSS	Aorta	Aorta
34	chr6:33588000-33589400	Active TSS	Brain Cingulate Gyrus	brain
35	chr6:33588000-33589400	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr6:33588000-33589400	Active TSS	Spleen	Spleen
37	chr6:33588000-33589400	Active TSS	Dnd41	blood
38	chr6:33588000-33589800	Active TSS	Primary T cells from cord blood	blood
39	chr6:33588000-33589800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:33588000-33589800	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr6:33588000-33589800	Active TSS	Brain Angular Gyrus	brain
42	chr6:33588000-33590000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr6:33588000-33590000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr6:33588000-33590000	Active TSS	Brain Anterior Caudate	brain
45	chr6:33588000-33590000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
46	chr6:33588000-33590000	Active TSS	Fetal Kidney	kidney
47	chr6:33588000-33590000	Active TSS	Fetal Lung	lung
48	chr6:33588000-33590000	Active TSS	NHDF-Ad	bronchial
49	chr6:33588000-33590200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:33588000-33590200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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