Variant report

Variant	rs547998386
Chromosome Location	chr6:11536448-11536449
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	REST	chr6:11535907-11536485	Hela-S3	cervix:	n/a	n/a
2	REST	chr6:11535699-11537243	HL-60	blood:	n/a	n/a
3	REST	chr6:11535933-11536507	K562	blood:	n/a	n/a
4	REST	chr6:11535693-11536789	MCF-7	breast:	n/a	n/a
5	SIN3AK20	chr6:11535682-11536547	MCF-7	breast:	n/a	n/a
6	REST	chr6:11535764-11536594	HCT-116	colon:	n/a	n/a
7	KAP1	chr6:11535733-11536489	HEK293	kidney:	n/a	n/a
8	REST	chr6:11535768-11536542	PFSK-1	brain:	n/a	n/a
9	SPI1	chr6:11536112-11536538	HL-60	blood:	n/a	chr6:11536369-11536382 chr6:11536371-11536380
10	REST	chr6:11535881-11536469	PFSK-1	brain:	n/a	n/a
11	REST	chr6:11535831-11536506	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr6:11536070-11536572	HL-60	blood:	n/a	n/a
13	REST	chr6:11535759-11537343	ECC-1	luminal epithelium:	n/a	n/a
14	REST	chr6:11535840-11536529	MCF-7	breast:	n/a	n/a
15	JUND	chr6:11535849-11536469	SK-N-SH	brain:	n/a	chr6:11536109-11536120
16	REST	chr6:11535792-11536567	HCT-116	colon:	n/a	n/a
17	REST	chr6:11535921-11536529	HepG2	liver:	n/a	n/a
18	TEAD4	chr6:11535897-11536453	A549	lung:	n/a	n/a
19	REST	chr6:11535873-11536497	HepG2	liver:	n/a	n/a
20	REST	chr6:11535770-11536547	Hela-S3	cervix:	n/a	n/a
21	NFIC	chr6:11535873-11536455	ECC-1	luminal epithelium:	n/a	n/a
22	REST	chr6:11535723-11536727	ECC-1	luminal epithelium:	n/a	n/a
23	REST	chr6:11535715-11536656	A549	lung:	n/a	n/a
24	JUND	chr6:11535802-11536517	MCF-7	breast:	n/a	chr6:11536109-11536120
25	REST	chr6:11535845-11536467	A549	lung:	n/a	n/a
26	TCF7L2	chr6:11536444-11537290	HEK293	kidney:	n/a	n/a
27	REST	chr6:11535876-11536514	PANC-1	pancreas:	n/a	n/a
28	RFX5	chr6:11536074-11538333	SK-N-SH	brain:	n/a	n/a
29	SPI1	chr6:11536096-11536589	HL-60	blood:	n/a	chr6:11536369-11536382 chr6:11536371-11536380
30	E2F4	chr6:11535931-11536702	MCF10A-Er-Src	breast:	n/a	n/a
31	REST	chr6:11535881-11536478	GM12878	blood:	n/a	n/a
32	RCOR1	chr6:11535607-11538534	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
TMEM170B	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv600989	chr6:11509323-11581990	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv3323084	chr6:11535666-11540364	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11527000-11537000	Weak transcription	Placenta	Placenta
2	chr6:11527400-11537200	Weak transcription	Gastric	stomach
3	chr6:11528000-11536800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:11531200-11536800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:11531800-11537400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:11533000-11537000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:11534600-11536600	Enhancers	HepG2	liver
8	chr6:11534600-11537000	Enhancers	Liver	Liver
9	chr6:11535200-11536800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr6:11535400-11537000	Enhancers	HUVEC	blood vessel
11	chr6:11535600-11537000	Enhancers	Hela-S3	cervix
12	chr6:11535800-11536600	Enhancers	HMEC	breast
13	chr6:11535800-11536800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:11535800-11536800	Enhancers	Brain Hippocampus Middle	brain
15	chr6:11535800-11537000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr6:11536000-11536800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:11536000-11536800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:11536000-11537000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:11536000-11537000	Enhancers	Adipose Nuclei	Adipose
20	chr6:11536000-11537000	Enhancers	Brain Anterior Caudate	brain
21	chr6:11536000-11537000	Weak transcription	NH-A	brain
22	chr6:11536000-11537400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr6:11536200-11536600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:11536200-11536600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:11536200-11536600	Weak transcription	Fetal Intestine Large	intestine
26	chr6:11536200-11536800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:11536200-11536800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:11536200-11536800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
29	chr6:11536200-11536800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:11536200-11536800	Enhancers	Primary B cells from cord blood	blood
31	chr6:11536200-11536800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:11536200-11536800	Enhancers	A549	lung
33	chr6:11536200-11537000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:11536200-11537000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr6:11536200-11537000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
36	chr6:11536200-11537000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr6:11536200-11537000	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:11536200-11537000	Weak transcription	Small Intestine	intestine
39	chr6:11536400-11536800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr6:11536400-11540400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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