Variant report

Variant	rs529288203
Chromosome Location	chr6:49429838-49429839
allele	A/C
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	SPI1	chr6:49429602-49429984	HL-60	blood:	n/a	n/a
2	NFYB	chr6:49429699-49430125	GM12878	blood:	n/a	n/a
3	MXI1	chr6:49429642-49431594	GM12878	blood:	n/a	n/a
4	SPI1	chr6:49429683-49429847	K562	blood:	n/a	n/a
5	STAT3	chr6:49429751-49430245	GM12878	blood:	n/a	chr6:49429770-49429777
6	SPI1	chr6:49429614-49429853	GM12891	blood:	n/a	n/a
7	POLR2A	chr6:49429792-49431845	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr6:49429827-49430010	MCF10A-Er-Src	breast:	n/a	n/a
9	YY1	chr6:49429673-49429918	K562	blood:	n/a	chr6:49429812-49429828
10	MAX	chr6:49429667-49430033	NB4	blood:	n/a	chr6:49429780-49429790
11	POLR2A	chr6:49429738-49431811	GM12891	blood:	n/a	n/a
12	MXI1	chr6:49429538-49431842	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:49428636..49430625-chr6:49435581..49438306,2	MCF-7	breast:
2	chr6:49352086..49353625-chr6:49427377..49430292,2	K562	blood:
3	chr6:49419838..49421598-chr6:49428414..49430900,2	K562	blood:
4	chr6:49428075..49430840-chr6:49629508..49632761,3	K562	blood:
5	chr6:49429390..49432411-chr6:49516710..49519961,3	MCF-7	breast:
6	chr6:49428409..49430841-chr6:49452599..49454961,2	K562	blood:
7	chr6:49427543..49430477-chr6:49436132..49438156,2	K562	blood:

Variant related genes	Relation type
CENPQ	TF binding region
ENSG00000197261	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv915806	chr6:49313295-49430422	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv603081	chr6:49421241-49446233	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv603082	chr6:49421241-49446509	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv603083	chr6:49429706-49446233	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv603084	chr6:49429706-49446509	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv603085	chr6:49429706-49450341	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 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	chr6:49406800-49430400	Weak transcription	Esophagus	oesophagus
2	chr6:49407800-49430400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:49407800-49430400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:49407800-49430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:49407800-49430400	Weak transcription	Lung	lung
6	chr6:49408000-49430400	Weak transcription	Gastric	stomach
7	chr6:49408800-49430000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:49409200-49430400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:49410400-49430400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:49419800-49430000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:49427400-49430200	Weak transcription	Placenta	Placenta
12	chr6:49428000-49430400	Flanking Active TSS	Liver	Liver
13	chr6:49428200-49430000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:49428600-49430000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:49428800-49430200	Enhancers	Primary B cells from peripheral blood	blood
16	chr6:49429000-49430000	Enhancers	Primary B cells from cord blood	blood
17	chr6:49429000-49430000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr6:49429000-49434200	Active TSS	GM12878-XiMat	blood
19	chr6:49429200-49430000	Enhancers	Spleen	Spleen
20	chr6:49429200-49430200	Enhancers	Small Intestine	intestine
21	chr6:49429200-49430400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr6:49429200-49430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:49429200-49432000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:49429400-49430000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr6:49429400-49430000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:49429400-49430000	Enhancers	Stomach Mucosa	stomach
27	chr6:49429400-49430200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:49429400-49430200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:49429400-49430200	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr6:49429400-49430400	Flanking Active TSS	Dnd41	blood
31	chr6:49429400-49430600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:49429400-49430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:49429400-49432000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:49429400-49432000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:49429400-49432200	Active TSS	Ovary	ovary
36	chr6:49429400-49432200	Active TSS	Right Atrium	heart
37	chr6:49429600-49430000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:49429600-49430000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:49429600-49430000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:49429600-49430000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr6:49429600-49430000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:49429600-49430000	Active TSS	Brain Hippocampus Middle	brain
43	chr6:49429600-49430000	Enhancers	Fetal Heart	heart
44	chr6:49429600-49430000	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr6:49429600-49430000	Flanking Active TSS	Fetal Lung	lung
46	chr6:49429600-49430000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr6:49429600-49430000	Flanking Active TSS	Thymus	Thymus
48	chr6:49429600-49430000	Flanking Active TSS	HepG2	liver
49	chr6:49429600-49430000	Flanking Active TSS	HMEC	breast
50	chr6:49429600-49430000	Flanking Active TSS	K562	blood

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