Variant report

Variant	rs545183387
Chromosome Location	chr6:33588223-33588224
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	CTCF	chr6:33588180-33588330	NHEK	skin:	n/a	n/a
5	POLR2A	chr6:33587950-33590165	Hela-S3	cervix:	n/a	n/a
6	RCOR1	chr6:33588024-33588227	K562	blood:	n/a	n/a
7	MAX	chr6:33588051-33590088	ECC-1	luminal epithelium:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
8	ELF1	chr6:33587855-33588234	A549	lung:	n/a	chr6:33588078-33588091 chr6:33588015-33588028
9	POLR2A	chr6:33587813-33588270	HCT-116	colon:	n/a	n/a
10	ELF1	chr6:33587879-33588455	GM12878	blood:	n/a	chr6:33588078-33588091 chr6:33588015-33588028
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	CTCF	chr6:33588160-33588310	HRPEpiC	eye:	n/a	n/a
14	RUNX3	chr6:33587881-33588331	GM12878	blood:	n/a	n/a
15	TCF12	chr6:33587908-33588692	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr6:33587996-33590038	MCF10A-Er-Src	breast:	n/a	n/a
17	CTCF	chr6:33588140-33588290	HEEpiC	esophagus:	n/a	n/a
18	TEAD4	chr6:33587973-33588789	ECC-1	luminal epithelium:	n/a	n/a
19	ELF1	chr6:33587897-33588341	K562	blood:	n/a	chr6:33588078-33588091 chr6:33588015-33588028
20	CTCF	chr6:33588120-33588270	HBMEC	blood vessel:	n/a	n/a
21	SMARCC1	chr6:33586961-33588673	Hela-S3	cervix:	n/a	n/a
22	MAX	chr6:33587836-33590117	Hela-S3	cervix:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
23	MAX	chr6:33587927-33589931	A549	lung:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
24	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
25	SIN3A	chr6:33587857-33590046	H1-hESC	embryonic stem cell:	n/a	chr6:33587958-33587971 chr6:33589849-33589857 chr6:33588670-33588681 chr6:33587966-33587974
26	POLR2A	chr6:33587672-33589176	U87	brain:	n/a	n/a
27	CTCF	chr6:33588080-33588230	HRE	kidney:	n/a	n/a
28	SIN3AK20	chr6:33588003-33588354	PANC-1	pancreas:	n/a	n/a
29	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
30	CTCF	chr6:33588140-33588290	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr6:33587843-33588364	PANC-1	pancreas:	n/a	n/a
32	EBF1	chr6:33588062-33588415	GM12878	blood:	n/a	chr6:33588290-33588301
33	ZBTB7A	chr6:33587900-33588351	K562	blood:	n/a	n/a
34	MAX	chr6:33587775-33590168	HCT-116	colon:	n/a	chr6:33589328-33589337 chr6:33589347-33589356 chr6:33589001-33589011
35	ELF1	chr6:33587905-33588297	GM12878	blood:	n/a	chr6:33588078-33588091 chr6:33588015-33588028
36	CTCF	chr6:33588212-33588316	MCF-7	breast:	n/a	n/a
37	CTCF	chr6:33588120-33588270	Hela-S3	cervix:	n/a	n/a
38	ZBTB7A	chr6:33587872-33588689	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr6:33587836-33589724	GM18505	blood:	n/a	n/a
40	CTCF	chr6:33588160-33588310	NHDF-neo	bronchial:	n/a	n/a
41	MAZ	chr6:33587852-33590071	Hela-S3	cervix:	n/a	chr6:33589328-33589337 chr6:33589347-33589356
42	POLR2A	chr6:33588038-33588295	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr6:33588203-33588326	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:33587939-33589850	GM15510	blood:	n/a	n/a
45	ELK1	chr6:33588037-33588488	Hela-S3	cervix:	n/a	n/a
46	RCOR1	chr6:33587762-33588413	K562	blood:	n/a	n/a
47	POLR2A	chr6:33587236-33590289	HUVEC	blood vessel:	n/a	n/a
48	TFAP2C	chr6:33587771-33589488	Hela-S3	cervix:	n/a	n/a
49	MYC	chr6:33588205-33589089	MCF10A-Er-Src	breast:	n/a	chr6:33589001-33589011
50	POLR2A	chr6:33587828-33590873	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33588219-33588269	MCF-7	breast:	n/a
2	chr6:33588219-33588269	HIPEpiC	eye:	n/a
3	chr6:33588219-33588269	Hela-S3	cervix:	n/a
4	chr6:33588219-33588269	SKMC	muscle:	n/a
5	chr6:33588219-33588269	RPTEC	kidney:	n/a
6	chr6:33588219-33588269	NH-A	brain:	n/a
7	chr6:33588219-33588269	GM12892	blood:	n/a
8	chr6:33588219-33588269	GM06990	blood:	n/a
9	chr6:33588219-33588269	LNCaP	prostate:	n/a
10	chr6:33588219-33588269	MCF10A-Er-Src	breast:	n/a
11	chr6:33588219-33588269	NHBE	bronchial:	n/a
12	chr6:33588219-33588269	HUVEC	blood vessel:	n/a
13	chr6:33588219-33588269	HCM	heart:	n/a
14	chr6:33588219-33588269	PANC-1	pancreas:	n/a
15	chr6:33588219-33588269	HRPEpiC	eye:	n/a
16	chr6:33588219-33588269	Caco-2	colon:	n/a
17	chr6:33588219-33588269	HEK293	kidney:	embryo
18	chr6:33588219-33588269	K562	blood:	n/a
19	chr6:33588219-33588269	NHDF-neo	bronchial:	n/a
20	chr6:33588219-33588269	HL-60	blood:	n/a
21	chr6:33588219-33588269	GM12878	blood:	n/a
22	chr6:33588219-33588269	SK-N-SH	brain:	n/a
23	chr6:33588219-33588269	PFSK-1	brain:	n/a
24	chr6:33588219-33588269	AoSMC	blood vessel:	n/a
25	chr6:33588219-33588269	HepG2	liver:	n/a
26	chr6:33588219-33588269	AG10803	skin:	n/a
27	chr6:33588219-33588269	A549	lung:	n/a
28	chr6:33588219-33588269	SK-N-MC	brain:	n/a
29	chr6:33588219-33588269	BE2_C	brain:	n/a
30	chr6:33588219-33588269	AG09319	gingival:	n/a
31	chr6:33588219-33588269	HCPEpiC	choroid plexus:	n/a
32	chr6:33588219-33588269	AG04450	lung:	fetal
33	chr6:33588219-33588269	SK-N-SH_RA	brain:	n/a
34	chr6:33588219-33588269	NT2-D1	testis:	n/a
35	chr6:33588219-33588269	HEEpiC	esophagus:	n/a
36	chr6:33588219-33588269	HNPCEpiC	eye:	n/a
37	chr6:33588219-33588269	HCT-116	colon:	n/a
38	chr6:33588219-33588269	HAEpiC	amniotic membrane:	n/a
39	chr6:33588219-33588269	HRCEpiC	kidney:	n/a
40	chr6:33588219-33588269	CMK	blood:	n/a
41	chr6:33588219-33588269	GM12891	blood:	n/a
42	chr6:33588219-33588269	H1-hESC	embryonic stem cell:	embryo
43	chr6:33588219-33588269	PrEC	prostate:	n/a
44	chr6:33588219-33588269	HMEC	breast:	n/a
45	chr6:33588219-33588269	IMR90	lung:	fetal
46	chr6:33588219-33588269	Jurkat	blood:	n/a
47	chr6:33588219-33588269	T-47D	breast:	n/a
48	chr6:33588219-33588269	SAEC	small airway:	n/a
49	chr6:33588219-33588269	GM19239	blood:	n/a
50	chr6:33588219-33588269	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33587976..33588692-chr7:152372698..152373478,2	Hela-S3	cervix:
2	chr18:18691523..18692461-chr6:33588062..33589054,2	Hela-S3	cervix:
3	chr17:56735246..56737826-chr6:33586590..33589099,2	MCF-7	breast:
4	chr6:33587172..33590152-chr6:34203876..34205466,2	K562	blood:
5	chr19:11491411..11492183-chr6:33588219..33588815,2	Hela-S3	cervix:
6	chr6:33550022..33555745-chr6:33586647..33590467,5	MCF-7	breast:
7	chr6:33551460..33554975-chr6:33588078..33592105,4	K562	blood:
8	chr6:33382580..33384156-chr6:33587956..33590051,2	K562	blood:
9	chr6:33587667..33592228-chr6:33677016..33679936,5	MCF-7	breast:

Variant related genes	Relation type
ITPR3	TF binding region
ITPR3	CpG island
ENSG00000204188	Chromatin interaction
ENSG00000196584	Chromatin interaction
ENSG00000137288	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000187266	Chromatin interaction
ENSG00000067900	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	chr6:33587800-33588400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:33587800-33588400	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr6:33587800-33588400	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr6:33587800-33588400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr6:33587800-33588400	Flanking Active TSS	Fetal Thymus	thymus
18	chr6:33587800-33588600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:33587800-33589000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr6:33587800-33589000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr6:33587800-33589200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:33587800-33589200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:33587800-33589200	Active TSS	Brain Hippocampus Middle	brain
24	chr6:33587800-33589200	Active TSS	Psoas Muscle	Psoas
25	chr6:33587800-33589400	Active TSS	Colon Smooth Muscle	Colon
26	chr6:33587800-33589400	Active TSS	Rectal Smooth Muscle	rectum
27	chr6:33587800-33589400	Active TSS	Right Atrium	heart
28	chr6:33587800-33589600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:33587800-33589600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:33587800-33589600	Active TSS	Placenta Amnion	Placenta Amnion
31	chr6:33587800-33589800	Active TSS	Ovary	ovary
32	chr6:33587800-33590000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr6:33587800-33590000	Active TSS	Pancreas	Pancrea
34	chr6:33587800-33590400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr6:33587800-33590400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr6:33587800-33590400	Active TSS	NH-A	brain
37	chr6:33587800-33590600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr6:33588000-33588400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr6:33588000-33588600	Bivalent Enhancer	Fetal Heart	heart
40	chr6:33588000-33588800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:33588000-33588800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:33588000-33588800	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr6:33588000-33589000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
44	chr6:33588000-33589000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:33588000-33589000	Flanking Active TSS	Liver	Liver
46	chr6:33588000-33589200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:33588000-33589400	Active TSS	Aorta	Aorta
48	chr6:33588000-33589400	Active TSS	Brain Cingulate Gyrus	brain
49	chr6:33588000-33589400	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr6:33588000-33589400	Active TSS	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links