Variant report

Variant	rs71147369
Chromosome Location	chr17:37824594-37824595
allele	-/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	MYC	chr17:37824586-37824885	H1-hESC	embryonic stem cell:	n/a	chr17:37824602-37824611
2	EGR1	chr17:37824388-37824960	K562	blood:	n/a	chr17:37824635-37824648 chr17:37824630-37824652 chr17:37824635-37824645
3	E2F6	chr17:37824495-37825173	H1-hESC	embryonic stem cell:	n/a	chr17:37824524-37824534 chr17:37824718-37824728 chr17:37824521-37824531 chr17:37824632-37824642
4	EP300	chr17:37824518-37825042	K562	blood:	n/a	chr17:37824709-37824725 chr17:37824623-37824639 chr17:37824970-37824983
5	GABPA	chr17:37824568-37825053	H1-hESC	embryonic stem cell:	n/a	chr17:37824980-37824994
6	YY1	chr17:37823679-37825084	K562	blood:	n/a	chr17:37823814-37823823 chr17:37823817-37823826 chr17:37824597-37824616 chr17:37824711-37824725 chr17:37824225-37824239 chr17:37824518-37824532
7	HCFC1	chr17:37824456-37824998	K562	blood:	n/a	n/a
8	REST	chr17:37824489-37824997	K562	blood:	n/a	chr17:37824551-37824569 chr17:37824635-37824648
9	MYC	chr17:37824421-37825041	K562	blood:	n/a	chr17:37824602-37824611
10	POLR2A	chr17:37823556-37825166	K562	blood:	n/a	n/a
11	SIN3AK20	chr17:37824470-37824961	PANC-1	pancreas:	n/a	n/a
12	HDAC2	chr17:37824477-37824972	K562	blood:	n/a	n/a
13	POLR2A	chr17:37823100-37824994	K562	blood:	n/a	n/a
14	TCF12	chr17:37824515-37825250	A549	lung:	n/a	n/a
15	ZBTB7A	chr17:37823027-37825041	K562	blood:	n/a	chr17:37824004-37824012 chr17:37824015-37824026 chr17:37824298-37824305
16	GABPA	chr17:37824492-37825006	H1-hESC	embryonic stem cell:	n/a	chr17:37824980-37824994
17	MYC	chr17:37824428-37825164	K562	blood:	n/a	chr17:37824602-37824611
18	MAX	chr17:37824375-37825189	HepG2	liver:	n/a	chr17:37824602-37824611
19	MAX	chr17:37824401-37825059	K562	blood:	n/a	chr17:37824602-37824611
20	CTCF	chr17:37824421-37825294	SK-N-SH	brain:	n/a	n/a
21	MAX	chr17:37824408-37825174	H1-hESC	embryonic stem cell:	n/a	chr17:37824602-37824611
22	UBTF	chr17:37824482-37825033	K562	blood:	n/a	n/a
23	CTCF	chr17:37824541-37824606	GM12892	blood:	n/a	n/a
24	POLR2A	chr17:37824405-37824965	K562	blood:	n/a	n/a
25	BHLHE40	chr17:37824519-37825025	K562	blood:	n/a	n/a
26	TEAD4	chr17:37824422-37825046	K562	blood:	n/a	n/a
27	MAX	chr17:37824426-37825122	H1-hESC	embryonic stem cell:	n/a	chr17:37824602-37824611
28	RCOR1	chr17:37823151-37825237	K562	blood:	n/a	n/a
29	MAX	chr17:37824489-37825049	ECC-1	luminal epithelium:	n/a	chr17:37824602-37824611
30	CTCF	chr17:37824517-37825187	K562	blood:	n/a	n/a
31	E2F6	chr17:37824442-37825112	K562	blood:	n/a	chr17:37824524-37824534 chr17:37824718-37824728 chr17:37824521-37824531 chr17:37824632-37824642
32	UBTF	chr17:37823641-37825091	K562	blood:	n/a	n/a
33	NR2F2	chr17:37824581-37825231	K562	blood:	n/a	n/a
34	MAX	chr17:37824355-37825097	SK-N-SH	brain:	n/a	chr17:37824602-37824611
35	CTCF	chr17:37824559-37824607	GM19240	blood:	n/a	n/a
36	POLR2A	chr17:37819928-37825272	K562	blood:	n/a	n/a
37	SIN3AK20	chr17:37824417-37824944	K562	blood:	n/a	n/a
38	YY1	chr17:37824395-37824976	K562	blood:	n/a	chr17:37824597-37824616 chr17:37824711-37824725 chr17:37824518-37824532
39	ELF1	chr17:37824573-37824971	K562	blood:	n/a	n/a
40	SIN3A	chr17:37824585-37824994	H1-hESC	embryonic stem cell:	n/a	chr17:37824625-37824636
41	CTCF	chr17:37824424-37825230	A549	lung:	n/a	n/a
42	MYC	chr17:37823239-37825086	K562	blood:	n/a	chr17:37824602-37824611 chr17:37823321-37823330
43	MAX	chr17:37824382-37825058	K562	blood:	n/a	chr17:37824602-37824611
44	MYC	chr17:37824450-37825037	NB4	blood:	n/a	chr17:37824602-37824611
45	E2F6	chr17:37824393-37825124	A549	lung:	n/a	chr17:37824524-37824534 chr17:37824718-37824728 chr17:37824521-37824531 chr17:37824632-37824642
46	MAX	chr17:37824412-37825240	HepG2	liver:	n/a	chr17:37824602-37824611
47	ELF1	chr17:37824593-37825059	GM12878	blood:	n/a	n/a
48	ZMIZ1	chr17:37824467-37825046	K562	blood:	n/a	n/a
49	HEY1	chr17:37824367-37824974	K562	blood:	n/a	n/a
50	E2F6	chr17:37824474-37824970	K562	blood:	n/a	chr17:37824524-37824534 chr17:37824718-37824728 chr17:37824521-37824531 chr17:37824632-37824642

No.	Distal block	Cell Line	Cell type
1	chr17:37820269..37822636-chr17:37824547..37827418,2	MCF-7	breast:
2	chr17:37820932..37826284-chr17:37838504..37843351,7	K562	blood:
3	chr17:37775807..37781695-chr17:37822673..37828377,10	K562	blood:
4	chr17:37791520..37796368-chr17:37822308..37826994,8	K562	blood:
5	chr17:37821804..37826261-chr17:37885454..37888153,4	K562	blood:
6	chr17:37809503..37812375-chr17:37822536..37826640,4	K562	blood:
7	chr17:37702516..37704166-chr17:37823518..37825070,2	K562	blood:
8	chr17:37777756..37783081-chr17:37819129..37825010,9	K562	blood:

Variant related genes	Relation type
PNMT	TF binding region
ENSG00000167258	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000131771	Chromatin interaction
ENSG00000141741	Chromatin interaction
ENSG00000173991	Chromatin interaction
ENSG00000214546	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv516757	chr17:37781849-37834541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
11	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription 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 miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv908213	chr17:37807698-37839493	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
13	nsv528093	chr17:37814080-37866005	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv908214	chr17:37814224-37861833	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv908215	chr17:37818561-37834541	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	esv3377948	chr17:37823251-37825999	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
17	esv1728696	chr17:37824594-37824595	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37819200-37825200	Enhancers	Liver	Liver
2	chr17:37820400-37825200	Enhancers	Brain Angular Gyrus	brain
3	chr17:37821200-37824600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
4	chr17:37821600-37824600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
5	chr17:37821800-37825200	Active TSS	Psoas Muscle	Psoas
6	chr17:37822000-37824600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:37822000-37825200	Enhancers	Lung	lung
8	chr17:37822800-37824600	Enhancers	Pancreas	Pancrea
9	chr17:37822800-37824800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:37823200-37825200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
11	chr17:37823400-37824800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr17:37823400-37825000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:37823400-37825200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:37823600-37824600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr17:37823600-37824800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr17:37823600-37824800	Active TSS	Right Ventricle	heart
17	chr17:37823600-37825000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr17:37823600-37825000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr17:37823600-37825000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr17:37823600-37825000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
21	chr17:37823600-37825000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:37823600-37825200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr17:37823600-37825200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr17:37823600-37825200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr17:37823800-37824600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
26	chr17:37823800-37824600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr17:37823800-37824600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:37823800-37824600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr17:37823800-37824600	Active TSS	Fetal Brain Female	brain
30	chr17:37823800-37824600	Flanking Bivalent TSS/Enh	Placenta	Placenta
31	chr17:37823800-37824600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr17:37823800-37824600	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr17:37823800-37824600	Enhancers	HMEC	breast
34	chr17:37823800-37824800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:37823800-37824800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr17:37823800-37824800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr17:37823800-37824800	Weak transcription	Fetal Heart	heart
38	chr17:37823800-37824800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr17:37823800-37824800	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr17:37823800-37824800	Active TSS	HSMM	muscle
41	chr17:37823800-37824800	Active TSS	K562	blood
42	chr17:37823800-37825000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr17:37823800-37825000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:37823800-37825000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr17:37823800-37825000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr17:37823800-37825000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr17:37823800-37825000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr17:37823800-37825000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:37823800-37825000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
50	chr17:37823800-37825000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links