Variant report

Variant	rs190121291
Chromosome Location	chr10:5734292-5734293
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	CREB1	chr10:5734173-5735056	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF7L2	chr10:5733831-5735242	HEK293	kidney:	n/a	n/a
3	RUNX3	chr10:5734260-5735809	GM12878	blood:	n/a	chr10:5735613-5735622 chr10:5735613-5735622
4	MXI1	chr10:5734118-5735896	SK-N-SH	brain:	n/a	n/a
5	SIN3A	chr10:5734271-5735292	GM12878	blood:	n/a	chr10:5734831-5734844
6	POLR2A	chr10:5734280-5735310	K562	blood:	n/a	n/a
7	CREB1	chr10:5734264-5735175	GM12878	blood:	n/a	n/a
8	ZNF384	chr10:5734281-5734336	GM12878	blood:	n/a	n/a
9	MYC	chr10:5734195-5735556	A549	lung:	n/a	n/a
10	SIN3A	chr10:5734278-5735181	H1-hESC	embryonic stem cell:	n/a	chr10:5734831-5734844
11	POLR2A	chr10:5734233-5735400	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:5734277-5735372	GM12891	blood:	n/a	n/a
13	RUNX3	chr10:5734286-5735140	GM12878	blood:	n/a	n/a
14	STAT3	chr10:5734286-5734478	GM12878	blood:	n/a	n/a
15	ZMIZ1	chr10:5734289-5735517	K562	blood:	n/a	n/a
16	POLR2A	chr10:5733717-5735393	Raji	blood:	n/a	n/a
17	ZNF384	chr10:5734063-5734328	K562	blood:	n/a	n/a
18	TBP	chr10:5734258-5734303	GM12878	blood:	n/a	n/a
19	UBTF	chr10:5734278-5735315	K562	blood:	n/a	n/a
20	POLR2A	chr10:5734284-5735393	HepG2	liver:	n/a	n/a
21	POLR2A	chr10:5734258-5735374	GM12878	blood:	n/a	n/a
22	EP300	chr10:5734281-5734997	GM12878	blood:	n/a	chr10:5734697-5734713
23	MAX	chr10:5734231-5735407	HepG2	liver:	n/a	n/a
24	CHD1	chr10:5734278-5735602	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:5734278-5735382	GM12892	blood:	n/a	n/a
26	MXI1	chr10:5734124-5735898	GM12878	blood:	n/a	n/a
27	PML	chr10:5734275-5735177	GM12878	blood:	n/a	n/a
28	EP300	chr10:5734245-5735297	GM12878	blood:	n/a	chr10:5734697-5734713

No.	Distal block	Cell Line	Cell type
1	chr10:5733731..5736743-chr10:5750015..5755601,4	MCF-7	breast:
2	chr10:5726775..5729176-chr10:5734287..5736106,2	MCF-7	breast:
3	chr10:5706961..5708705-chr10:5733482..5736246,2	K562	blood:
4	chr10:5732056..5734929-chr10:5855542..5857938,2	K562	blood:
5	chr10:5731846..5734735-chr10:5789579..5792999,3	K562	blood:
6	chr10:5733787..5736575-chr10:5751182..5753712,2	MCF-7	breast:

Variant related genes	Relation type
FAM208B	TF binding region
ENSG00000057608	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000196372	Chromatin interaction
ENSG00000272764	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv549895	chr10:5712310-5735648	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1796213	chr10:5716555-5766165	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv522415	chr10:5721653-5768493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
9	nsv8600	chr10:5733691-5736727	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5728000-5734400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:5728200-5734400	Weak transcription	Aorta	Aorta
3	chr10:5728400-5734400	Weak transcription	HSMM	muscle
4	chr10:5728800-5746800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr10:5731200-5734400	Weak transcription	Dnd41	blood
6	chr10:5732000-5734400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr10:5732200-5734400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:5733600-5734400	Enhancers	Primary B cells from peripheral blood	blood
9	chr10:5733600-5734400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:5733600-5734400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr10:5733600-5734400	Enhancers	Liver	Liver
12	chr10:5733600-5734400	Enhancers	Colon Smooth Muscle	Colon
13	chr10:5733600-5734400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr10:5733600-5734600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr10:5733600-5735400	Flanking Active TSS	NHEK	skin
16	chr10:5733800-5734400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:5733800-5734400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:5733800-5734400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr10:5733800-5734400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr10:5733800-5734400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:5733800-5734400	Enhancers	Placenta	Placenta
22	chr10:5733800-5734400	Enhancers	Gastric	stomach
23	chr10:5733800-5734400	Enhancers	Lung	lung
24	chr10:5733800-5734400	Enhancers	Pancreas	Pancrea
25	chr10:5733800-5734400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr10:5733800-5734400	Enhancers	Psoas Muscle	Psoas
27	chr10:5733800-5734400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr10:5733800-5734400	Enhancers	Small Intestine	intestine
29	chr10:5733800-5734400	Enhancers	Stomach Mucosa	stomach
30	chr10:5733800-5734800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr10:5733800-5734800	Enhancers	Spleen	Spleen
32	chr10:5733800-5735400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr10:5733800-5735400	Bivalent Enhancer	Fetal Brain Male	brain
34	chr10:5733800-5735600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:5734000-5734400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:5734000-5734400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:5734000-5734400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr10:5734000-5734400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:5734000-5734400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr10:5734000-5734400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:5734000-5734400	Weak transcription	Colonic Mucosa	Colon
42	chr10:5734000-5734400	Enhancers	Esophagus	oesophagus
43	chr10:5734000-5734400	Enhancers	Left Ventricle	heart
44	chr10:5734000-5734400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr10:5734000-5734600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr10:5734000-5734800	Active TSS	GM12878-XiMat	blood
47	chr10:5734000-5735000	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr10:5734000-5735000	Active TSS	H1 Cell Line	embryonic stem cell
49	chr10:5734000-5735000	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr10:5734000-5735000	Active TSS	HUES6 Cell Line	embryonic stem cell

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