Variant report

Variant	rs139905785
Chromosome Location	chr17:37819423-37819424
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	MAZ	chr17:37819367-37820899	IMR90	lung:	n/a	chr17:37819743-37819753 chr17:37820491-37820500 chr17:37819965-37819975 chr17:37820490-37820501 chr17:37819889-37819899 chr17:37820492-37820499 chr17:37820490-37820500 chr17:37820489-37820504
2	YY1	chr17:37818770-37819586	ECC-1	luminal epithelium:	n/a	chr17:37819094-37819111
3	NFIC	chr17:37818514-37819662	ECC-1	luminal epithelium:	n/a	n/a
4	TCF12	chr17:37818426-37819753	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr17:37818833-37819423	ECC-1	luminal epithelium:	n/a	n/a
6	YY1	chr17:37818786-37819576	ECC-1	luminal epithelium:	n/a	chr17:37819094-37819111
7	ZBTB7A	chr17:37818112-37820811	ECC-1	luminal epithelium:	n/a	chr17:37818475-37818489
8	ZBTB7A	chr17:37818315-37819733	ECC-1	luminal epithelium:	n/a	chr17:37818475-37818489
9	TCF12	chr17:37818523-37820614	ECC-1	luminal epithelium:	n/a	n/a
10	EP300	chr17:37818580-37819614	ECC-1	luminal epithelium:	n/a	n/a
11	ESR1	chr17:37819222-37819559	ECC-1	luminal epithelium:	n/a	n/a
12	NFIC	chr17:37818618-37819686	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr17:37819278-37819557	K562	blood:	n/a	n/a
14	FOXA2	chr17:37819114-37819718	A549	lung:	n/a	n/a
15	TEAD4	chr17:37818536-37819532	ECC-1	luminal epithelium:	n/a	n/a
16	ESR1	chr17:37819226-37819591	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr17:37818616-37819524	ECC-1	luminal epithelium:	n/a	n/a
18	ZNF263	chr17:37819139-37819682	HEK293-T-REx	kidney:	n/a	n/a
19	MAX	chr17:37818642-37819676	ECC-1	luminal epithelium:	n/a	n/a
20	USF1	chr17:37818716-37819591	ECC-1	luminal epithelium:	n/a	n/a
21	YY1	chr17:37818878-37819574	H1-hESC	embryonic stem cell:	n/a	chr17:37819094-37819111
22	EP300	chr17:37818472-37819821	ECC-1	luminal epithelium:	n/a	n/a
23	FOXM1	chr17:37818549-37819461	ECC-1	luminal epithelium:	n/a	n/a
24	ESR1	chr17:37818720-37819556	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37814865..37817539-chr17:37818088..37820916,2	MCF-7	breast:
2	chr17:37806164..37807865-chr17:37817828..37819682,2	MCF-7	breast:
3	chr17:37818282..37821110-chr17:37882752..37884709,2	K562	blood:
4	chr17:37777756..37783081-chr17:37819129..37825010,9	K562	blood:

Variant related genes	Relation type
PNMT	TF binding region
TCAP	TF binding region
ENSG00000131771	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000141736	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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	nsv574992	chr17:37818561-37822311	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37795000-37823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:37799800-37819600	Weak transcription	Osteobl	bone
3	chr17:37800000-37820000	Weak transcription	NH-A	brain
4	chr17:37803800-37821800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:37810000-37819600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr17:37810000-37820000	Weak transcription	HSMMtube	muscle
7	chr17:37810000-37820400	Strong transcription	Brain Germinal Matrix	brain
8	chr17:37810200-37819800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:37810600-37820000	Weak transcription	K562	blood
10	chr17:37810600-37821000	Weak transcription	Fetal Brain Male	brain
11	chr17:37810800-37819600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:37810800-37820600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr17:37811800-37820800	Strong transcription	Fetal Brain Female	brain
14	chr17:37812000-37819600	Genic enhancers	Lung	lung
15	chr17:37812400-37819600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:37812600-37819600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:37813000-37820800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr17:37814000-37819800	Strong transcription	Dnd41	blood
19	chr17:37814000-37820400	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr17:37814800-37819800	Genic enhancers	Fetal Muscle Leg	muscle
21	chr17:37816400-37819600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:37816400-37819600	Genic enhancers	Right Ventricle	heart
23	chr17:37816400-37819600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr17:37816600-37819600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr17:37816600-37821600	Enhancers	Psoas Muscle	Psoas
26	chr17:37816800-37819600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:37816800-37820800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:37817000-37819600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr17:37817000-37819600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr17:37817000-37819600	Weak transcription	NHEK	skin
31	chr17:37817000-37820200	Weak transcription	HUVEC	blood vessel
32	chr17:37817000-37823000	Weak transcription	GM12878-XiMat	blood
33	chr17:37817200-37819600	Strong transcription	Primary T cells from cord blood	blood
34	chr17:37817200-37821000	Enhancers	Fetal Heart	heart
35	chr17:37817400-37820000	Enhancers	Left Ventricle	heart
36	chr17:37817600-37819600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:37817600-37819600	Genic enhancers	Gastric	stomach
38	chr17:37817600-37820000	Weak transcription	HSMM	muscle
39	chr17:37817600-37823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr17:37818000-37819600	Genic enhancers	Brain Substantia Nigra	brain
41	chr17:37818000-37819600	Genic enhancers	Pancreas	Pancrea
42	chr17:37818000-37819800	Genic enhancers	A549	lung
43	chr17:37818000-37820200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr17:37818000-37821200	Genic enhancers	Esophagus	oesophagus
45	chr17:37818200-37819800	Strong transcription	Fetal Thymus	thymus
46	chr17:37818200-37820000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:37818200-37820000	Weak transcription	Aorta	Aorta
48	chr17:37818200-37820000	Weak transcription	Fetal Lung	lung
49	chr17:37818200-37820400	Weak transcription	Brain Angular Gyrus	brain
50	chr17:37818200-37821000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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