Variant report

Variant	rs550917295
Chromosome Location	chr6:33588456-33588457
allele	G/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	chr6:33587814-33588686	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	chr6:33587950-33590165	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr6:33588361-33588727	IMR90	lung:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
6	MAX	chr6:33588051-33590088	ECC-1	luminal epithelium:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
7	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
8	STAT3	chr6:33588397-33588651	MCF10A-Er-Src	breast:	n/a	chr6:33588551-33588559
9	POLR2A	chr6:33587666-33589182	U87	brain:	n/a	n/a
10	FOS	chr6:33588333-33588685	MCF10A-Er-Src	breast:	n/a	n/a
11	TCF12	chr6:33587908-33588692	ECC-1	luminal epithelium:	n/a	n/a
12	STAT3	chr6:33588437-33588983	MCF10A-Er-Src	breast:	n/a	chr6:33588551-33588559
13	POLR2A	chr6:33587996-33590038	MCF10A-Er-Src	breast:	n/a	n/a
14	CEBPB	chr6:33588359-33588710	HepG2	liver:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
15	TEAD4	chr6:33587973-33588789	ECC-1	luminal epithelium:	n/a	n/a
16	RUNX3	chr6:33588410-33589246	GM12878	blood:	n/a	n/a
17	SIN3AK20	chr6:33588392-33589771	PANC-1	pancreas:	n/a	n/a
18	SMARCC1	chr6:33586961-33588673	Hela-S3	cervix:	n/a	n/a
19	MAX	chr6:33587836-33590117	Hela-S3	cervix:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
20	MAX	chr6:33587927-33589931	A549	lung:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
21	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
22	SIN3A	chr6:33587857-33590046	H1-hESC	embryonic stem cell:	n/a	chr6:33587958-33587971 chr6:33589849-33589857 chr6:33588670-33588681 chr6:33587966-33587974
23	TEAD4	chr6:33588338-33588677	K562	blood:	n/a	n/a
24	POLR2A	chr6:33587672-33589176	U87	brain:	n/a	n/a
25	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
26	MAX	chr6:33587775-33590168	HCT-116	colon:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
27	POLR2A	chr6:33588364-33589829	ECC-1	luminal epithelium:	n/a	n/a
28	ZBTB7A	chr6:33587872-33588689	ECC-1	luminal epithelium:	n/a	n/a
29	FOS	chr6:33588415-33588653	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr6:33587836-33589724	GM18505	blood:	n/a	n/a
31	MAZ	chr6:33587852-33590071	Hela-S3	cervix:	n/a	chr6:33589328-33589337 chr6:33589347-33589356
32	POLR2A	chr6:33587939-33589850	GM15510	blood:	n/a	n/a
33	ELK1	chr6:33588037-33588488	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr6:33587236-33590289	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr6:33588402-33589947	GM12892	blood:	n/a	n/a
36	TFAP2C	chr6:33587771-33589488	Hela-S3	cervix:	n/a	n/a
37	MYC	chr6:33588205-33589089	MCF10A-Er-Src	breast:	n/a	chr6:33589001-33589011
38	POLR2A	chr6:33587828-33590873	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr6:33588433-33589787	K562	blood:	n/a	n/a
40	POLR2A	chr6:33587743-33589942	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr6:33587978-33590022	GM12892	blood:	n/a	n/a
42	RAD21	chr6:33588182-33588579	IMR90	lung:	n/a	chr6:33588257-33588271 chr6:33588293-33588303
43	MAX	chr6:33587892-33590023	K562	blood:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
44	MXI1	chr6:33587781-33590201	Hela-S3	cervix:	n/a	chr6:33589775-33589784
45	IRF1	chr6:33588036-33588949	K562	blood:	n/a	chr6:33588496-33588507 chr6:33588084-33588093 chr6:33588205-33588216 chr6:33588204-33588218 chr6:33588495-33588509
46	FOS	chr6:33588293-33588671	MCF10A-Er-Src	breast:	n/a	n/a
47	MAX	chr6:33587844-33590011	A549	lung:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
48	HA-E2F1	chr6:33588151-33589659	Hela-S3	cervix:	n/a	chr6:33588697-33588711 chr6:33588700-33588714 chr6:33589542-33589552 chr6:33588764-33588774 chr6:33589545-33589555 chr6:33589058-33589067 chr6:33588412-33588429
49	CTCF	chr6:33588400-33588550	A549	lung:	n/a	n/a
50	MYC	chr6:33588174-33589462	MCF10A-Er-Src	breast:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011

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	chr6:33587667..33592228-chr6:33677016..33679936,5	MCF-7	breast:

Variant related genes	Relation type
ITPR3	TF binding region
ENSG00000137309	Chromatin interaction
ENSG00000187266	Chromatin interaction
ENSG00000137288	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000067900	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000204188	Chromatin interaction
ENSG00000165891	Chromatin interaction
ENSG00000030110	Chromatin interaction
ENSG00000196584	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000202077	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33586800-33588600	Flanking Bivalent TSS/Enh	HepG2	liver
2	chr6:33587000-33588600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr6:33587200-33588600	Flanking Active TSS	HUVEC	blood vessel
4	chr6:33587200-33589000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:33587600-33588600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr6:33587600-33588600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:33587600-33588600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
8	chr6:33587600-33589000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr6:33587600-33589000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
10	chr6:33587600-33590000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:33587600-33590000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr6:33587600-33590200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:33587800-33588600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:33587800-33589000	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr6:33587800-33589000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr6:33587800-33589200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:33587800-33589200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:33587800-33589200	Active TSS	Brain Hippocampus Middle	brain
19	chr6:33587800-33589200	Active TSS	Psoas Muscle	Psoas
20	chr6:33587800-33589400	Active TSS	Colon Smooth Muscle	Colon
21	chr6:33587800-33589400	Active TSS	Rectal Smooth Muscle	rectum
22	chr6:33587800-33589400	Active TSS	Right Atrium	heart
23	chr6:33587800-33589600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:33587800-33589600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:33587800-33589600	Active TSS	Placenta Amnion	Placenta Amnion
26	chr6:33587800-33589800	Active TSS	Ovary	ovary
27	chr6:33587800-33590000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr6:33587800-33590000	Active TSS	Pancreas	Pancrea
29	chr6:33587800-33590400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr6:33587800-33590400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr6:33587800-33590400	Active TSS	NH-A	brain
32	chr6:33587800-33590600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr6:33588000-33588600	Bivalent Enhancer	Fetal Heart	heart
34	chr6:33588000-33588800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:33588000-33588800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:33588000-33588800	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr6:33588000-33589000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
38	chr6:33588000-33589000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:33588000-33589000	Flanking Active TSS	Liver	Liver
40	chr6:33588000-33589200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:33588000-33589400	Active TSS	Aorta	Aorta
42	chr6:33588000-33589400	Active TSS	Brain Cingulate Gyrus	brain
43	chr6:33588000-33589400	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr6:33588000-33589400	Active TSS	Spleen	Spleen
45	chr6:33588000-33589400	Active TSS	Dnd41	blood
46	chr6:33588000-33589800	Active TSS	Primary T cells from cord blood	blood
47	chr6:33588000-33589800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:33588000-33589800	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr6:33588000-33589800	Active TSS	Brain Angular Gyrus	brain
50	chr6:33588000-33590000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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