Variant report

Variant	rs2941523
Chromosome Location	chr17:37823761-37823762
allele	C/G
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	EGR1	chr17:37823656-37824216	K562	blood:	n/a	n/a
2	E2F6	chr17:37823213-37824200	K562	blood:	n/a	chr17:37823412-37823422 chr17:37823830-37823841
3	E2F6	chr17:37823672-37824322	K562	blood:	n/a	chr17:37823830-37823841
4	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
5	JUN	chr17:37822708-37824178	K562	blood:	n/a	chr17:37823320-37823329 chr17:37823320-37823330 chr17:37823721-37823735
6	POLR2A	chr17:37823556-37825166	K562	blood:	n/a	n/a
7	POLR2A	chr17:37823100-37824994	K562	blood:	n/a	n/a
8	IRF1	chr17:37823748-37824041	K562	blood:	n/a	n/a
9	ZBTB7A	chr17:37823027-37825041	K562	blood:	n/a	chr17:37824004-37824012 chr17:37824015-37824026 chr17:37824298-37824305
10	PML	chr17:37823660-37824038	K562	blood:	n/a	n/a
11	GATA1	chr17:37823373-37824111	PBDE	blood:	n/a	chr17:37823866-37823883 chr17:37823959-37823968
12	TAF1	chr17:37823722-37824173	K562	blood:	n/a	n/a
13	NR3C1	chr17:37823646-37824210	A549	lung:	n/a	chr17:37823836-37823850 chr17:37824032-37824049 chr17:37824042-37824051 chr17:37824033-37824050 chr17:37823793-37823806 chr17:37824034-37824048 chr17:37824030-37824051 chr17:37824034-37824048
14	UBTF	chr17:37823648-37824197	K562	blood:	n/a	n/a
15	RCOR1	chr17:37823151-37825237	K562	blood:	n/a	n/a
16	HCFC1	chr17:37823722-37824096	K562	blood:	n/a	n/a
17	ZBTB7A	chr17:37823087-37823787	ECC-1	luminal epithelium:	n/a	n/a
18	UBTF	chr17:37823641-37825091	K562	blood:	n/a	n/a
19	EP300	chr17:37823689-37824202	K562	blood:	n/a	chr17:37823898-37823907 chr17:37823817-37823826 chr17:37823814-37823823
20	POLR2A	chr17:37819928-37825272	K562	blood:	n/a	n/a
21	TEAD4	chr17:37823676-37824162	K562	blood:	n/a	n/a
22	GATA2	chr17:37823647-37824166	K562	blood:	n/a	chr17:37823866-37823883 chr17:37823959-37823968
23	MYC	chr17:37823239-37825086	K562	blood:	n/a	chr17:37824602-37824611 chr17:37823321-37823330
24	E2F4	chr17:37823635-37824080	K562	blood:	n/a	chr17:37823830-37823841
25	GATA1	chr17:37823750-37824044	PBDEFetal	blood:	n/a	chr17:37823866-37823883 chr17:37823959-37823968
26	GABPA	chr17:37823653-37824217	K562	blood:	n/a	n/a
27	POLR2A	chr17:37823704-37824271	K562	blood:	n/a	n/a
28	MAX	chr17:37823703-37824152	K562	blood:	n/a	n/a
29	HEY1	chr17:37823574-37824200	K562	blood:	n/a	chr17:37823735-37823750
30	CEBPD	chr17:37823653-37824269	K562	blood:	n/a	n/a
31	HDAC2	chr17:37823121-37824141	K562	blood:	n/a	chr17:37823876-37823885
32	EGR1	chr17:37823605-37825268	K562	blood:	n/a	chr17:37824635-37824648 chr17:37825132-37825145 chr17:37824372-37824381 chr17:37824630-37824652 chr17:37824635-37824645 chr17:37825131-37825146 chr17:37824195-37824219
33	YY1	chr17:37823699-37824102	K562	blood:	n/a	chr17:37823814-37823823 chr17:37823817-37823826
34	ZBTB7A	chr17:37822966-37824999	K562	blood:	n/a	chr17:37824004-37824012 chr17:37824015-37824026 chr17:37824298-37824305
35	NR2F2	chr17:37822571-37824231	K562	blood:	n/a	n/a
36	GATA1	chr17:37823718-37824132	K562	blood:	n/a	chr17:37823866-37823883 chr17:37823959-37823968
37	POLR2A	chr17:37822690-37824064	K562	blood:	n/a	n/a
38	NR2F2	chr17:37823680-37824087	K562	blood:	n/a	n/a
39	RAD21	chr17:37823710-37823845	K562	blood:	n/a	n/a
40	RCOR1	chr17:37823428-37824009	K562	blood:	n/a	n/a
41	ELF1	chr17:37823611-37824202	K562	blood:	n/a	chr17:37823897-37823909
42	CBX3	chr17:37823704-37824096	K562	blood:	n/a	n/a
43	TAL1	chr17:37823659-37824141	K562	blood:	n/a	chr17:37823866-37823884
44	PML	chr17:37823672-37824093	K562	blood:	n/a	n/a
45	POLR2A	chr17:37823712-37823898	K562	blood:	n/a	n/a
46	CCNT2	chr17:37823497-37824187	K562	blood:	n/a	chr17:37824123-37824132 chr17:37823776-37823785
47	TBL1XR1	chr17:37823699-37824106	K562	blood:	n/a	n/a
48	MAZ	chr17:37822599-37825070	K562	blood:	n/a	chr17:37824602-37824611 chr17:37823321-37823330
49	ZMIZ1	chr17:37823615-37824152	K562	blood:	n/a	n/a
50	NR3C1	chr17:37823631-37824206	ECC-1	luminal epithelium:	n/a	chr17:37823836-37823850 chr17:37824032-37824049 chr17:37824042-37824051 chr17:37824033-37824050 chr17:37823793-37823806 chr17:37824034-37824048 chr17:37824030-37824051 chr17:37824034-37824048

No.	Distal block	Cell Line	Cell type
1	chr17:37822303..37824126-chr17:37856298..37859081,2	K562	blood:
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
ENSG00000131748	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000141741	Chromatin interaction
ENSG00000131771	Chromatin interaction
ENSG00000214546	Chromatin interaction
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1050293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs15968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934959	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934965	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2934966	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2941510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941516	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2952139	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2952149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2952150	0.92[EUR][1000 genomes]
rs59522915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73294098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73296106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73296109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37795000-37823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:37819200-37825200	Enhancers	Liver	Liver
3	chr17:37819600-37823800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:37819600-37824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:37820400-37825200	Enhancers	Brain Angular Gyrus	brain
6	chr17:37820600-37824000	Enhancers	HSMMtube	muscle
7	chr17:37821000-37823800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr17:37821000-37824400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
9	chr17:37821200-37824600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
10	chr17:37821600-37824000	Bivalent Enhancer	Brain Germinal Matrix	brain
11	chr17:37821600-37824600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr17:37821800-37824400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr17:37821800-37825200	Active TSS	Psoas Muscle	Psoas
14	chr17:37822000-37823800	Enhancers	Brain Substantia Nigra	brain
15	chr17:37822000-37824400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
16	chr17:37822000-37824600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:37822000-37825200	Enhancers	Lung	lung
18	chr17:37822200-37823800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
19	chr17:37822200-37823800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:37822200-37823800	Bivalent Enhancer	Placenta	Placenta
21	chr17:37822400-37823800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr17:37822400-37824000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr17:37822600-37823800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:37822600-37823800	Bivalent Enhancer	Fetal Lung	lung
25	chr17:37822600-37823800	Enhancers	Hela-S3	cervix
26	chr17:37822600-37824000	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr17:37822600-37824000	Enhancers	Ovary	ovary
28	chr17:37822800-37823800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:37822800-37824200	Enhancers	Gastric	stomach
30	chr17:37822800-37824600	Enhancers	Pancreas	Pancrea
31	chr17:37822800-37824800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:37823000-37823800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr17:37823000-37823800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr17:37823000-37823800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr17:37823000-37823800	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr17:37823000-37823800	Bivalent Enhancer	Colon Smooth Muscle	Colon
37	chr17:37823000-37823800	Flanking Active TSS	HSMM	muscle
38	chr17:37823000-37823800	Flanking Active TSS	K562	blood
39	chr17:37823000-37823800	Bivalent Enhancer	NHLF	lung
40	chr17:37823200-37823800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
41	chr17:37823200-37823800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
42	chr17:37823200-37823800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:37823200-37823800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
44	chr17:37823200-37823800	Enhancers	Esophagus	oesophagus
45	chr17:37823200-37823800	Bivalent Enhancer	Fetal Stomach	stomach
46	chr17:37823200-37823800	Bivalent Enhancer	HMEC	breast
47	chr17:37823200-37824000	Enhancers	Spleen	Spleen
48	chr17:37823200-37824200	Bivalent Enhancer	Brain Hippocampus Middle	brain
49	chr17:37823200-37824200	Bivalent Enhancer	Colonic Mucosa	Colon
50	chr17:37823200-37824200	Bivalent Enhancer	Stomach Mucosa	stomach

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