Variant report

Variant	rs560880319
Chromosome Location	chr6:80657889-80657890
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	KAP1	chr6:80657389-80657991	HEK293	kidney:	n/a	n/a
2	MXI1	chr6:80656919-80658234	IMR90	lung:	n/a	n/a
3	E2F6	chr6:80656690-80657999	H1-hESC	embryonic stem cell:	n/a	chr6:80657279-80657289 chr6:80657153-80657162 chr6:80657151-80657161 chr6:80656753-80656762 chr6:80657429-80657438
4	REST	chr6:80655877-80657936	H1-neurons	neurons:	n/a	chr6:80657244-80657262 chr6:80657516-80657529 chr6:80656573-80656586 chr6:80656821-80656831
5	SETDB1	chr6:80657305-80657945	U2OS	brain:	n/a	chr6:80657429-80657438
6	MAX	chr6:80656518-80657955	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr6:80656908-80657890	MCF-7	breast:	n/a	n/a
8	MAX	chr6:80656842-80657910	H1-hESC	embryonic stem cell:	n/a	n/a
9	NRF1	chr6:80656490-80657994	SK-N-SH	brain:	n/a	chr6:80657428-80657439 chr6:80657428-80657442 chr6:80657425-80657439 chr6:80657428-80657437 chr6:80657183-80657190 chr6:80656796-80656805
10	MAZ	chr6:80656079-80658066	IMR90	lung:	n/a	n/a
11	MAX	chr6:80656935-80657974	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr6:80656988-80657932	H1-hESC	embryonic stem cell:	n/a	chr6:80657279-80657289 chr6:80657153-80657162 chr6:80657151-80657161 chr6:80657429-80657438
13	MAX	chr6:80657135-80657898	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr6:80656974-80657908	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:80657745..80660049-chr6:80716512..80719051,2	MCF-7	breast:
2	chr6:80656144..80658220-chr6:80712686..80714230,2	K562	blood:
3	chr1:149858428..149860800-chr6:80655814..80658112,2	MCF-7	breast:

Variant related genes	Relation type
ELOVL4	TF binding region
ENSG00000184260	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000112742	Chromatin interaction
ENSG00000178096	Chromatin interaction

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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3475140	chr6:80592690-80679283	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3475142	chr6:80592789-80679132	Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
5	nsv933704	chr6:80657182-80674202	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80655600-80659400	Active TSS	Thymus	Thymus
2	chr6:80655800-80658000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:80656000-80658000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:80656200-80658000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:80656800-80658000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
6	chr6:80657000-80658000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr6:80657400-80658000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr6:80657400-80658000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:80657400-80658000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
10	chr6:80657400-80658000	Flanking Active TSS	Dnd41	blood
11	chr6:80657600-80658000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:80657600-80658000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
13	chr6:80657600-80658000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr6:80657600-80658000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr6:80657600-80658000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:80657600-80658000	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr6:80657600-80658000	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr6:80657600-80658000	Bivalent/Poised TSS	Fetal Brain Male	brain
19	chr6:80657600-80658000	Flanking Active TSS	NHEK	skin
20	chr6:80657800-80658000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:80657800-80658000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:80657800-80658000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:80657800-80658000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr6:80657800-80658000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
25	chr6:80657800-80658000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr6:80657800-80658000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:80657800-80658000	Bivalent Enhancer	Primary T cells from cord blood	blood
28	chr6:80657800-80658000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:80657800-80658000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr6:80657800-80658000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr6:80657800-80658000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
32	chr6:80657800-80658000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:80657800-80658000	Enhancers	Brain Anterior Caudate	brain
34	chr6:80657800-80658000	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:80657800-80658000	Enhancers	Esophagus	oesophagus
36	chr6:80657800-80658000	Flanking Active TSS	Fetal Brain Female	brain
37	chr6:80657800-80658000	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr6:80657800-80658000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr6:80657800-80658000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
40	chr6:80657800-80658000	Active TSS	HMEC	breast
41	chr6:80657800-80658000	Bivalent Enhancer	NH-A	brain
42	chr6:80657800-80658000	Bivalent/Poised TSS	NHDF-Ad	bronchial
43	chr6:80657800-80658200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
44	chr6:80657800-80658800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:80657800-80659000	Weak transcription	Gastric	stomach
46	chr6:80657800-80659200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:80657800-80659800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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