Variant report

Variant	rs547301966
Chromosome Location	chr9:136399508-136399509
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	EP300	chr9:136399472-136399887	SK-N-SH_RA	brain:	n/a	chr9:136399646-136399655 chr9:136399641-136399657 chr9:136399645-136399661 chr9:136399642-136399658 chr9:136399624-136399640 chr9:136399644-136399660 chr9:136399644-136399653 chr9:136399641-136399650 chr9:136399803-136399812
2	NFIC	chr9:136399410-136399820	ECC-1	luminal epithelium:	n/a	n/a
3	NFIC	chr9:136399500-136399972	SK-N-SH	brain:	n/a	n/a
4	BHLHE40	chr9:136399241-136399863	HepG2	liver:	n/a	chr9:136399644-136399660 chr9:136399631-136399647 chr9:136399641-136399657
5	GABPA	chr9:136399427-136399942	H1-hESC	embryonic stem cell:	n/a	chr9:136399806-136399820
6	GABPA	chr9:136399431-136400352	H1-hESC	embryonic stem cell:	n/a	chr9:136399806-136399820 chr9:136400125-136400134
7	MXI1	chr9:136399424-136399733	H1-hESC	embryonic stem cell:	n/a	n/a
8	ELF1	chr9:136399156-136399833	GM12878	blood:	n/a	chr9:136399642-136399654 chr9:136399388-136399397 chr9:136399387-136399398 chr9:136399643-136399652 chr9:136399646-136399655
9	ELF1	chr9:136399354-136399590	K562	blood:	n/a	chr9:136399388-136399397 chr9:136399387-136399398
10	CTBP2	chr9:136399312-136400329	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr9:136399052-136400500	HepG2	liver:	n/a	chr9:136400126-136400136
12	MXI1	chr9:136398970-136400066	IMR90	lung:	n/a	n/a
13	EP300	chr9:136399451-136399874	SK-N-SH_RA	brain:	n/a	chr9:136399646-136399655 chr9:136399641-136399657 chr9:136399645-136399661 chr9:136399642-136399658 chr9:136399624-136399640 chr9:136399644-136399660 chr9:136399644-136399653 chr9:136399641-136399650 chr9:136399803-136399812
14	RAD21	chr9:136399431-136399974	SK-N-SH_RA	brain:	n/a	chr9:136399822-136399835 chr9:136399556-136399570
15	TCF12	chr9:136398891-136399930	SK-N-SH	brain:	n/a	chr9:136399000-136399010
16	UBTF	chr9:136399426-136399825	K562	blood:	n/a	n/a
17	TCF12	chr9:136398881-136400064	SK-N-SH	brain:	n/a	chr9:136399000-136399010
18	RAD21	chr9:136397945-136401922	SK-N-SH	brain:	n/a	chr9:136398364-136398374 chr9:136399822-136399835 chr9:136399556-136399570 chr9:136398362-136398375 chr9:136398364-136398376
19	TBP	chr9:136399421-136399768	H1-hESC	embryonic stem cell:	n/a	n/a
20	YY1	chr9:136399498-136399841	SK-N-SH_RA	brain:	n/a	chr9:136399644-136399658 chr9:136399643-136399652 chr9:136399641-136399655 chr9:136399640-136399654 chr9:136399640-136399649
21	SMC3	chr9:136398102-136401007	SK-N-SH	brain:	n/a	chr9:136398360-136398374 chr9:136400504-136400514 chr9:136400129-136400143 chr9:136398364-136398374 chr9:136398728-136398735
22	MAZ	chr9:136399274-136400204	IMR90	lung:	n/a	chr9:136400126-136400136

Variant related genes	Relation type
ADAMTSL2	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894059	chr9:136123840-136486929	Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv894077	chr9:136166346-136515297	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv894078	chr9:136194595-136484292	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv933226	chr9:136224559-136407071	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv894081	chr9:136227260-136678954	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv894083	chr9:136281753-136452144	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv894084	chr9:136281753-136458311	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv894085	chr9:136281753-136478442	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv894086	chr9:136281753-136657960	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv894092	chr9:136311679-136452144	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv894093	chr9:136311679-136458311	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv894094	chr9:136311679-136528721	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
13	nsv530972	chr9:136324358-136643044	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
14	nsv894097	chr9:136333356-136407208	Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv894098	chr9:136335824-136452144	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv894099	chr9:136337168-136459543	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
17	nsv894100	chr9:136371224-136547602	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv894101	chr9:136378650-136458311	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv894102	chr9:136388223-136496708	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv894103	chr9:136397195-136442192	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv615637	chr9:136397834-136404516	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv894104	chr9:136399075-136442192	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136397800-136399600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr9:136397800-136399600	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr9:136397800-136400400	Enhancers	HSMM	muscle
4	chr9:136398000-136399600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr9:136398000-136399800	Enhancers	Brain Angular Gyrus	brain
6	chr9:136398000-136400000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:136398000-136400200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
8	chr9:136398000-136400200	Bivalent Enhancer	Placenta	Placenta
9	chr9:136398000-136400200	Enhancers	HSMMtube	muscle
10	chr9:136398200-136399600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr9:136398200-136399800	Enhancers	Fetal Lung	lung
12	chr9:136398200-136402000	Enhancers	Fetal Brain Male	brain
13	chr9:136398400-136400000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr9:136398400-136400000	Bivalent Enhancer	Fetal Stomach	stomach
15	chr9:136398600-136399600	Bivalent Enhancer	Primary B cells from cord blood	blood
16	chr9:136398600-136399800	Enhancers	Ovary	ovary
17	chr9:136398600-136400400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:136398600-136400400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:136398600-136400800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:136398600-136402200	Enhancers	Spleen	Spleen
21	chr9:136398800-136399600	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr9:136398800-136399800	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr9:136398800-136399800	Bivalent Enhancer	NHDF-Ad	bronchial
24	chr9:136398800-136400000	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr9:136398800-136400000	Enhancers	Gastric	stomach
26	chr9:136398800-136400000	Enhancers	Lung	lung
27	chr9:136398800-136400200	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr9:136398800-136400200	Bivalent Enhancer	NHLF	lung
29	chr9:136399000-136399600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:136399000-136399600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr9:136399000-136399600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
32	chr9:136399000-136399800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:136399000-136400200	Bivalent Enhancer	NH-A	brain
34	chr9:136399000-136400400	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr9:136399200-136399600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:136399200-136399600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:136399200-136399600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
38	chr9:136399200-136399600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr9:136399200-136399600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
40	chr9:136399200-136399600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr9:136399200-136399600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
42	chr9:136399200-136399600	Flanking Active TSS	Liver	Liver
43	chr9:136399200-136399600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr9:136399200-136399600	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr9:136399200-136399600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
46	chr9:136399200-136399600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr9:136399200-136399600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr9:136399200-136399600	Bivalent Enhancer	Dnd41	blood
49	chr9:136399200-136399800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr9:136399200-136399800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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