Variant report

Variant	rs555971217
Chromosome Location	chr17:37774053-37774054
allele	C/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	NFYB	chr17:37773912-37774199	GM12878	blood:	n/a	n/a
2	ELF1	chr17:37773877-37774244	K562	blood:	n/a	n/a
3	POLR2A	chr17:37773914-37774416	HUVEC	blood vessel:	n/a	n/a
4	MYC	chr17:37773876-37774919	Hela-S3	cervix:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
5	TCF12	chr17:37773658-37774436	ECC-1	luminal epithelium:	n/a	n/a
6	BHLHE40	chr17:37773952-37774258	HepG2	liver:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
7	E2F6	chr17:37773801-37774463	K562	blood:	n/a	chr17:37774171-37774182 chr17:37774198-37774207 chr17:37774140-37774154 chr17:37774374-37774388
8	YY1	chr17:37774002-37774210	K562	blood:	n/a	chr17:37774165-37774174
9	ELK1	chr17:37773999-37774099	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr17:37773375-37775120	SK-N-SH	brain:	n/a	n/a
11	USF1	chr17:37773969-37774201	H1-hESC	embryonic stem cell:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
12	POLR2A	chr17:37773840-37774850	NB4	blood:	n/a	n/a
13	USF1	chr17:37773964-37774317	SK-N-SH	brain:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
14	E2F6	chr17:37773895-37774452	A549	lung:	n/a	chr17:37774171-37774182 chr17:37774198-37774207 chr17:37774140-37774154 chr17:37774374-37774388
15	MAX	chr17:37773944-37774236	K562	blood:	n/a	chr17:37774166-37774176 chr17:37773959-37773969 chr17:37774115-37774126
16	MAZ	chr17:37773548-37775040	IMR90	lung:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
17	HA-E2F1	chr17:37773607-37774320	MCF-7	breast:	n/a	chr17:37774198-37774207 chr17:37774140-37774154
18	MAX	chr17:37773837-37774579	H1-hESC	embryonic stem cell:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
19	USF1	chr17:37773974-37774173	HepG2	liver:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
20	MYC	chr17:37774052-37774428	HUVEC	blood vessel:	n/a	chr17:37774166-37774176 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
21	ZBTB7A	chr17:37774014-37774704	K562	blood:	n/a	n/a
22	MAZ	chr17:37773925-37774251	GM12878	blood:	n/a	chr17:37774166-37774176 chr17:37773959-37773969 chr17:37774115-37774126
23	MAX	chr17:37773752-37774609	ECC-1	luminal epithelium:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
24	ELF1	chr17:37773877-37774297	K562	blood:	n/a	n/a
25	ZNF263	chr17:37773455-37774145	HEK293-T-REx	kidney:	n/a	n/a
26	MAX	chr17:37773933-37774413	H1-hESC	embryonic stem cell:	n/a	chr17:37774166-37774176 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
27	MYC	chr17:37773715-37775034	NB4	blood:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
28	REST	chr17:37773936-37774224	K562	blood:	n/a	n/a
29	MAX	chr17:37773466-37775262	A549	lung:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37774889-37774899 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
30	ELF1	chr17:37773884-37774195	HepG2	liver:	n/a	n/a
31	CREB1	chr17:37773877-37774555	A549	lung:	n/a	n/a
32	USF1	chr17:37773982-37774213	A549	lung:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
33	USF1	chr17:37773959-37774249	GM12878	blood:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
34	POLR2A	chr17:37773921-37774405	ECC-1	luminal epithelium:	n/a	n/a
35	CHD2	chr17:37773880-37774372	Hela-S3	cervix:	n/a	n/a
36	MAX	chr17:37773534-37774498	K562	blood:	n/a	chr17:37774166-37774176 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
37	EP300	chr17:37773695-37774490	ECC-1	luminal epithelium:	n/a	chr17:37774176-37774192
38	MXI1	chr17:37773761-37775068	IMR90	lung:	n/a	n/a
39	ZNF143	chr17:37773533-37774295	GM12878	blood:	n/a	n/a
40	MAX	chr17:37773895-37774775	A549	lung:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126
41	POLR2A	chr17:37773974-37774408	Hela-S3	cervix:	n/a	n/a
42	USF1	chr17:37773956-37774203	H1-hESC	embryonic stem cell:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
43	BHLHE40	chr17:37773917-37774311	A549	lung:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
44	JUND	chr17:37773904-37774436	A549	lung:	n/a	chr17:37774199-37774208
45	POLR2A	chr17:37773930-37774415	HCT-116	colon:	n/a	n/a
46	BHLHE40	chr17:37773696-37774351	GM12878	blood:	n/a	chr17:37774117-37774126 chr17:37774116-37774125 chr17:37774116-37774125
47	POLR2A	chr17:37774014-37774217	A549	lung:	n/a	n/a
48	HA-E2F1	chr17:37773852-37774634	Hela-S3	cervix:	n/a	chr17:37774198-37774207 chr17:37774140-37774154 chr17:37774374-37774388
49	E2F6	chr17:37773820-37775024	A549	lung:	n/a	chr17:37774171-37774182 chr17:37774198-37774207 chr17:37774891-37774903 chr17:37774140-37774154 chr17:37774374-37774388
50	MAX	chr17:37773867-37774579	SK-N-SH	brain:	n/a	chr17:37774569-37774579 chr17:37774548-37774558 chr17:37774166-37774176 chr17:37773959-37773969 chr17:37774398-37774407 chr17:37774297-37774306 chr17:37774115-37774126

No.	Distal block	Cell Line	Cell type
1	chr17:37772840..37775144-chr17:37791860..37794775,2	MCF-7	breast:
2	chr17:37769144..37771005-chr17:37773634..37775729,2	MCF-7	breast:
3	chr17:37768363..37771309-chr17:37772118..37774468,3	K562	blood:
4	chr17:37763822..37767125-chr17:37772337..37774939,3	MCF-7	breast:
5	chr17:37773896..37776239-chr17:37886682..37888820,2	MCF-7	breast:
6	chr17:37773259..37775797-chr17:37912370..37914095,2	MCF-7	breast:
7	chr17:37356113..37357004-chr17:37773849..37774768,2	NB4	blood:
8	chr17:37730305..37732141-chr17:37773715..37775844,2	MCF-7	breast:
9	chr17:37773404..37776321-chr17:37819728..37822241,2	MCF-7	breast:
10	chr17:37773726..37775508-chr17:37899665..37902639,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214546	TF binding region
ENSG00000173991	Chromatin interaction
ENSG00000108298	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000141741	Chromatin interaction
ENSG00000171532	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
3	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	nsv908208	chr17:37749259-37781849	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv908209	chr17:37749259-37790340	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv908210	chr17:37761202-37781849	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv908211	chr17:37765047-37782410	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv908212	chr17:37765047-37790340	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	esv3391098	chr17:37773251-37775799	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37771800-37776200	Enhancers	Fetal Brain Male	brain
2	chr17:37773400-37775200	Bivalent/Poised TSS	NHEK	skin
3	chr17:37773600-37774200	Enhancers	Fetal Heart	heart
4	chr17:37773600-37774200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr17:37773600-37774200	Active TSS	Spleen	Spleen
6	chr17:37773600-37774200	Flanking Bivalent TSS/Enh	Dnd41	blood
7	chr17:37773600-37774200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
8	chr17:37773600-37774600	Bivalent/Poised TSS	Thymus	Thymus
9	chr17:37773600-37774600	Active TSS	K562	blood
10	chr17:37773600-37774800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:37773600-37774800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:37773600-37775000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr17:37773600-37775200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr17:37773600-37775200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr17:37773600-37775200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr17:37773600-37775200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr17:37773600-37775200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr17:37773600-37775200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:37773600-37775200	Enhancers	Liver	Liver
20	chr17:37773800-37774200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr17:37773800-37774200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:37773800-37774600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr17:37773800-37774600	Bivalent/Poised TSS	HepG2	liver
24	chr17:37773800-37774600	Active TSS	HUVEC	blood vessel
25	chr17:37773800-37774800	Active TSS	Primary T cells from cord blood	blood
26	chr17:37773800-37774800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:37773800-37774800	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr17:37773800-37775000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr17:37773800-37775000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr17:37773800-37775000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:37773800-37775000	Active TSS	Aorta	Aorta
32	chr17:37773800-37775000	Active TSS	Colon Smooth Muscle	Colon
33	chr17:37773800-37775000	Active TSS	Esophagus	oesophagus
34	chr17:37773800-37775000	Active TSS	Gastric	stomach
35	chr17:37773800-37775000	Active TSS	Left Ventricle	heart
36	chr17:37773800-37775200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr17:37773800-37775200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr17:37773800-37775200	Enhancers	Fetal Lung	lung
39	chr17:37773800-37775200	Active TSS	Lung	lung
40	chr17:37773800-37775200	Active TSS	Rectal Smooth Muscle	rectum
41	chr17:37773800-37775200	Bivalent/Poised TSS	NHLF	lung
42	chr17:37773800-37775400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr17:37773800-37775400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr17:37774000-37774200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:37774000-37774200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr17:37774000-37774200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:37774000-37774200	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr17:37774000-37774600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:37774000-37774600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr17:37774000-37774600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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