Variant report

Variant	rs72709610
Chromosome Location	chr9:33446089-33446090
allele	A/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	ATF1	chr9:33446030-33446255	K562	blood:	n/a	n/a
2	POLR2A	chr9:33445820-33447651	PBDE	blood:	n/a	n/a
3	RCOR1	chr9:33445420-33447966	K562	blood:	n/a	n/a
4	TBL1XR1	chr9:33446036-33446242	K562	blood:	n/a	n/a
5	JUND	chr9:33445980-33446180	K562	blood:	n/a	n/a
6	TEAD4	chr9:33445953-33446385	K562	blood:	n/a	n/a
7	UBTF	chr9:33445976-33446161	K562	blood:	n/a	n/a
8	GATA1	chr9:33445373-33447602	PBDE	blood:	n/a	chr9:33447269-33447276 chr9:33445662-33445675 chr9:33446532-33446542 chr9:33445417-33445428
9	JUN	chr9:33445606-33447785	K562	blood:	n/a	chr9:33447148-33447158 chr9:33447148-33447158 chr9:33447149-33447157 chr9:33447148-33447158
10	EP300	chr9:33445884-33446385	K562	blood:	n/a	n/a
11	MAX	chr9:33445991-33446287	K562	blood:	n/a	n/a
12	MYC	chr9:33445800-33446322	K562	blood:	n/a	n/a
13	POLR2A	chr9:33445921-33446346	K562	blood:	n/a	n/a
14	POLR2A	chr9:33445865-33447900	K562	blood:	n/a	n/a
15	RELA	chr9:33446058-33447207	GM19193	blood:	n/a	n/a
16	MAX	chr9:33446067-33448591	NB4	blood:	n/a	chr9:33446892-33446902 chr9:33446787-33446798 chr9:33448169-33448180
17	RCOR1	chr9:33445986-33446283	K562	blood:	n/a	n/a
18	POLR2A	chr9:33445988-33446369	K562	blood:	n/a	n/a
19	TAL1	chr9:33445813-33446408	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:33262875..33266717-chr9:33442401..33447759,7	MCF-7	breast:
2	chr9:33445821..33447609-chr9:33472349..33474000,2	MCF-7	breast:
3	chr9:33415175..33415859-chr9:33445481..33446163,2	MCF-7	breast:
4	chr9:33377020..33378729-chr9:33445436..33446963,2	MCF-7	breast:
5	chr9:33444170..33447177-chr9:33466129..33468559,3	MCF-7	breast:
6	chr5:73936454..73938143-chr9:33443701..33446678,2	MCF-7	breast:
7	chr9:33445766..33447768-chr9:33448192..33450842,2	K562	blood:

Variant related genes	Relation type
ENSG00000270542	TF binding region
AQP3	TF binding region
ENSG00000086065	Chromatin interaction
ENSG00000165271	Chromatin interaction
ENSG00000270542	Chromatin interaction
ENSG00000107262	Chromatin interaction
ENSG00000171617	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs35141650	0.87[AFR][1000 genomes]
rs35806926	0.87[AFR][1000 genomes]
rs3860990	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56108788	0.81[AMR][1000 genomes]
rs72709611	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72709612	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709613	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72709621	0.81[AMR][1000 genomes]
rs72709624	0.81[AMR][1000 genomes]
rs72709629	0.81[AMR][1000 genomes]

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	nsv1024207	chr9:33296368-33574892	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1024571	chr9:33380148-33468682	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	esv1846775	chr9:33380722-33464665	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1015928	chr9:33386067-33468682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv893018	chr9:33408019-33451136	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv466380	chr9:33434931-33453638	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv614147	chr9:33434931-33453638	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv516500	chr9:33434931-33466859	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
9	nsv893019	chr9:33436563-33449952	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv893020	chr9:33441826-33449952	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv614148	chr9:33442986-33447553	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv893021	chr9:33442986-33449952	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv893022	chr9:33444076-33447579	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv893023	chr9:33444076-33447824	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	nsv893024	chr9:33444861-33449952	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
16	nsv614149	chr9:33445716-33447824	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	nsv893025	chr9:33445716-33449952	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:33437000-33446600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:33439800-33446200	Weak transcription	Left Ventricle	heart
3	chr9:33442400-33446200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:33443200-33446200	Transcr. at gene 5' and 3'	Thymus	Thymus
5	chr9:33443600-33446200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:33443600-33446400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:33443600-33446400	Weak transcription	NHLF	lung
8	chr9:33444000-33446400	Weak transcription	Fetal Stomach	stomach
9	chr9:33444000-33446400	Weak transcription	Right Ventricle	heart
10	chr9:33444600-33447400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr9:33444600-33447400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr9:33444600-33447400	Flanking Active TSS	Hela-S3	cervix
13	chr9:33444800-33446200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr9:33444800-33446800	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr9:33444800-33447000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:33444800-33447800	Enhancers	Stomach Mucosa	stomach
17	chr9:33445000-33446400	Flanking Active TSS	Liver	Liver
18	chr9:33445000-33447200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr9:33445000-33447400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr9:33445000-33448000	Flanking Active TSS	Placenta	Placenta
21	chr9:33445000-33448200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:33445200-33446200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:33445200-33446200	Enhancers	Colonic Mucosa	Colon
24	chr9:33445200-33446200	Enhancers	Gastric	stomach
25	chr9:33445200-33446400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
26	chr9:33445200-33446600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr9:33445200-33446600	Enhancers	Right Atrium	heart
28	chr9:33445200-33446800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr9:33445200-33447200	Enhancers	Fetal Lung	lung
30	chr9:33445200-33447400	Flanking Active TSS	K562	blood
31	chr9:33445200-33448400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr9:33445200-33448400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr9:33445200-33448400	Flanking Active TSS	NHEK	skin
34	chr9:33445200-33448600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:33445400-33446200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr9:33445400-33446400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr9:33445400-33446400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr9:33445400-33446600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr9:33445400-33446600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr9:33445400-33446600	Enhancers	A549	lung
41	chr9:33445400-33446800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:33445400-33446800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:33445400-33446800	Enhancers	GM12878-XiMat	blood
44	chr9:33445400-33446800	Enhancers	HMEC	breast
45	chr9:33445400-33447000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:33445400-33447200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:33445400-33447200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr9:33445400-33447200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr9:33445400-33447200	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr9:33445400-33447200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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