Variant report

Variant	rs650075
Chromosome Location	chr6:44265496-44265497
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr6:44265331-44265734	K562	blood:	n/a	n/a
2	POLR2A	chr6:44264816-44267173	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr6:44263896-44265854	HepG2	liver:	n/a	n/a
4	ELF1	chr6:44265274-44265760	GM12878	blood:	n/a	chr6:44265489-44265501
5	CBX3	chr6:44265325-44265750	K562	blood:	n/a	n/a
6	USF2	chr6:44265106-44265741	H1-hESC	embryonic stem cell:	n/a	chr6:44265527-44265543
7	MAX	chr6:44265322-44265954	H1-hESC	embryonic stem cell:	n/a	n/a
8	HDAC2	chr6:44264939-44265792	MCF-7	breast:	n/a	n/a
9	MXI1	chr6:44264814-44265878	IMR90	lung:	n/a	n/a
10	POLR2A	chr6:44265359-44266934	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr6:44265334-44266081	GM12891	blood:	n/a	n/a
12	POLR2A	chr6:44265324-44266044	MCF-7	breast:	n/a	n/a
13	CREB1	chr6:44265064-44265879	K562	blood:	n/a	n/a
14	CREB1	chr6:44265384-44265654	A549	lung:	n/a	n/a
15	NRF1	chr6:44265228-44265782	SK-N-SH	brain:	n/a	chr6:44265434-44265448 chr6:44265437-44265451 chr6:44265485-44265494
16	POLR2A	chr6:44264802-44266416	H1-hESC	embryonic stem cell:	n/a	n/a
17	ETS1	chr6:44265298-44265581	K562	blood:	n/a	n/a
18	POLR2A	chr6:44265386-44266027	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr6:44263937-44267184	K562	blood:	n/a	n/a
20	E2F6	chr6:44265340-44265703	K562	blood:	n/a	chr6:44265438-44265447
21	MXI1	chr6:44265377-44265558	HepG2	liver:	n/a	n/a
22	POLR2A	chr6:44265434-44266967	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:44264697-44266191	PBDE	blood:	n/a	n/a
24	POLR2A	chr6:44265464-44267000	K562	blood:	n/a	n/a
25	MAX	chr6:44265275-44265763	K562	blood:	n/a	n/a
26	CREB1	chr6:44264963-44265796	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:44264001-44266664	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUND	chr6:44265285-44265714	A549	lung:	n/a	chr6:44265697-44265706
29	BHLHE40	chr6:44265491-44265606	K562	blood:	n/a	chr6:44265527-44265543
30	SIN3AK20	chr6:44265354-44265651	K562	blood:	n/a	n/a
31	POLR2A	chr6:44265073-44266118	K562	blood:	n/a	n/a
32	POLR2A	chr6:44265337-44266334	GM18951	blood:	n/a	n/a
33	MAX	chr6:44265285-44265800	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr6:44264864-44265755	H1-hESC	embryonic stem cell:	n/a	n/a
35	MXI1	chr6:44265367-44265726	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr6:44264831-44265703	H1-hESC	embryonic stem cell:	n/a	chr6:44265522-44265533
37	E2F6	chr6:44265388-44265713	K562	blood:	n/a	chr6:44265698-44265707 chr6:44265438-44265447
38	MYC	chr6:44265438-44265624	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr6:44265214-44266185	HEK293	kidney:	n/a	n/a
40	POLR2A	chr6:44265385-44266422	GM12891	blood:	n/a	n/a
41	MXI1	chr6:44265431-44265605	K562	blood:	n/a	n/a
42	REST	chr6:44265062-44265891	H1-neurons	neurons:	n/a	chr6:44265482-44265495
43	POLR2A	chr6:44264628-44266423	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr6:44264477-44266487	GM12878	blood:	n/a	n/a
45	POLR2A	chr6:44265250-44265687	IMR90	lung:	n/a	n/a
46	UBTF	chr6:44265359-44265615	K562	blood:	n/a	n/a
47	POLR2A	chr6:44264520-44266824	H1-hESC	embryonic stem cell:	n/a	n/a
48	HMGN3	chr6:44265306-44265713	K562	blood:	n/a	n/a
49	E2F6	chr6:44265274-44265886	H1-hESC	embryonic stem cell:	n/a	chr6:44265698-44265707 chr6:44265438-44265447
50	MAZ	chr6:44264538-44265855	IMR90	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62606512..62609356-chr6:44264959..44266812,2	MCF-7	breast:
2	chr6:44231713..44233466-chr6:44264708..44267385,2	MCF-7	breast:
3	chr6:44250404..44254517-chr6:44264090..44267267,4	MCF-7	breast:
4	chr6:44237771..44241790-chr6:44264717..44266725,3	MCF-7	breast:
5	chr6:44261562..44267016-chr6:44278207..44281216,9	MCF-7	breast:
6	chr6:44223567..44227779-chr6:44264321..44266816,4	MCF-7	breast:
7	chr6:44223709..44226790-chr6:44264741..44266558,3	MCF-7	breast:
8	chr6:44214289..44217035-chr6:44262196..44266038,3	K562	blood:
9	chr6:44215194..44217832-chr6:44265456..44268236,2	K562	blood:

No data

Variant related genes	Relation type
TCTE1	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000146232	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000178233	Chromatin interaction
ENSG00000272442	Chromatin interaction
ENSG00000146221	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11571907	1.00[ASN][1000 genomes]
rs11571915	1.00[ASN][1000 genomes]
rs11571917	1.00[ASN][1000 genomes]
rs11571951	1.00[ASN][1000 genomes]
rs11571957	1.00[ASN][1000 genomes]
rs11571998	1.00[ASN][1000 genomes]
rs11572002	1.00[ASN][1000 genomes]
rs11572056	1.00[ASN][1000 genomes]
rs12193699	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293204	1.00[ASN][1000 genomes]
rs1331293	1.00[ASN][1000 genomes]
rs1411905	1.00[ASN][1000 genomes]
rs161706	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324141	1.00[EUR][1000 genomes]
rs324143	1.00[EUR][1000 genomes]
rs325005	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325006	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325007	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325008	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325009	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325010	0.82[EUR][1000 genomes]
rs325011	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35260018	0.96[EUR][1000 genomes]
rs4308546	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4499913	0.80[AFR][1000 genomes]
rs4714775	0.82[EUR][1000 genomes]
rs4714778	1.00[ASN][1000 genomes]
rs482336	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484757	1.00[EUR][1000 genomes]
rs505617	1.00[EUR][1000 genomes]
rs511088	1.00[EUR][1000 genomes]
rs534416	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567192	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568902	1.00[EUR][1000 genomes]
rs61462867	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927345	1.00[ASN][1000 genomes]
rs7740535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865027	1.00[EUR][1000 genomes]
rs9369483	1.00[ASN][1000 genomes]
rs9472241	1.00[EUR][1000 genomes]
rs9472243	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472244	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS 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	201 gene(s)	inside rSNPs	diseases
2	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription 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 miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
7	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44264400-44266000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr6:44264400-44266000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:44264400-44266200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:44264400-44266200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:44264600-44265800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:44264600-44265800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:44264600-44266000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:44264600-44266200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr6:44264600-44266200	Bivalent Enhancer	Placenta	Placenta
10	chr6:44264800-44265600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:44264800-44265600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:44264800-44265600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
13	chr6:44264800-44265600	Bivalent/Poised TSS	A549	lung
14	chr6:44264800-44265800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:44264800-44265800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:44264800-44265800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:44264800-44265800	Bivalent Enhancer	Primary B cells from cord blood	blood
18	chr6:44264800-44265800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr6:44264800-44265800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr6:44264800-44265800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:44264800-44265800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:44264800-44265800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:44264800-44265800	Active TSS	Brain Anterior Caudate	brain
24	chr6:44264800-44265800	Flanking Active TSS	Right Ventricle	heart
25	chr6:44264800-44265800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
26	chr6:44264800-44266000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr6:44264800-44266000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr6:44264800-44266000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:44264800-44266000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:44264800-44266000	Active TSS	Brain Angular Gyrus	brain
31	chr6:44264800-44266000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
32	chr6:44264800-44266000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr6:44264800-44266000	Enhancers	Spleen	Spleen
34	chr6:44264800-44266200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr6:44264800-44266400	Enhancers	Lung	lung
36	chr6:44265000-44265600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr6:44265000-44265600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:44265000-44265600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:44265000-44265600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:44265000-44265600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
41	chr6:44265000-44265600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:44265000-44265600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:44265000-44265600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr6:44265000-44265600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr6:44265000-44265600	Flanking Active TSS	Left Ventricle	heart
46	chr6:44265000-44265600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
47	chr6:44265000-44265600	Transcr. at gene 5' and 3'	Right Atrium	heart
48	chr6:44265000-44265600	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr6:44265000-44265600	Active TSS	HepG2	liver
50	chr6:44265000-44265800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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