Variant report

Variant	rs567192
Chromosome Location	chr6:44266266-44266267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:44266260-44266410	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr6:44266260-44266410	AG09309	skin:	n/a	n/a
3	POLR2A	chr6:44264816-44267173	PFSK-1	brain:	n/a	n/a
4	CTCF	chr6:44266180-44266330	WERI-Rb-1	eye:	n/a	n/a
5	ZNF143	chr6:44266157-44266461	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:44265359-44266934	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr6:44264802-44266416	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr6:44266180-44266330	HCFaa	heart:	n/a	n/a
9	POLR2A	chr6:44263937-44267184	K562	blood:	n/a	n/a
10	POLR2A	chr6:44266176-44267029	K562	blood:	n/a	n/a
11	POLR2A	chr6:44265434-44266967	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:44265464-44267000	K562	blood:	n/a	n/a
13	POLR2A	chr6:44264001-44266664	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:44265337-44266334	GM18951	blood:	n/a	n/a
15	CTCF	chr6:44266180-44266330	HEK293	kidney:	n/a	n/a
16	POLR2A	chr6:44266252-44266352	GM12878	blood:	n/a	n/a
17	CTCF	chr6:44266220-44266370	HAc	cerebellar:	n/a	n/a
18	POLR2A	chr6:44265385-44266422	GM12891	blood:	n/a	n/a
19	POLR2A	chr6:44264628-44266423	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr6:44266225-44266753	K562	blood:	n/a	n/a
21	POLR2A	chr6:44264477-44266487	GM12878	blood:	n/a	n/a
22	CTCF	chr6:44266220-44266370	HEK293	kidney:	n/a	n/a
23	POLR2A	chr6:44264520-44266824	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr6:44265867-44267076	HepG2	liver:	n/a	n/a
25	POLR2A	chr6:44265194-44267200	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:44266244-44266396	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:44263749-44267649	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:44262579-44266712	MCF10A-Er-Src	breast:	n/a	n/a
29	CTCF	chr6:44266240-44266390	Caco-2	colon:	n/a	n/a
30	POLR2A	chr6:44265447-44267463	K562	blood:	n/a	n/a
31	POLR2A	chr6:44265031-44267708	PFSK-1	brain:	n/a	n/a
32	CTCF	chr6:44266240-44266390	BE2_C	brain:	n/a	n/a
33	CTCF	chr6:44266160-44266310	HPF	lung:	n/a	n/a
34	POLR2A	chr6:44265113-44266465	K562	blood:	n/a	n/a
35	POLR2A	chr6:44264694-44267364	K562	blood:	n/a	n/a
36	POLR2A	chr6:44265253-44266268	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr6:44265456-44267637	K562	blood:	n/a	n/a
38	POLR2A	chr6:44264588-44267786	SK-N-MC	brain:	n/a	n/a
39	CTCF	chr6:44266240-44266390	AG09319	gingival:	n/a	n/a
40	POLR2A	chr6:44263985-44267145	GM12892	blood:	n/a	n/a
41	POLR2A	chr6:44265341-44266702	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr6:44262653-44266299	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr6:44265568-44266413	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr6:44265411-44267001	GM12892	blood:	n/a	n/a
45	CTCF	chr6:44266220-44266370	HepG2	liver:	n/a	n/a
46	CTCF	chr6:44266240-44266390	SK-N-SH_RA	brain:	n/a	n/a
47	POLR2A	chr6:44264619-44267120	GM12878	blood:	n/a	n/a
48	CTCF	chr6:44266260-44266410	GM12873	blood:	n/a	n/a
49	CTCF	chr6:44266220-44266370	K562	blood:	n/a	n/a
50	SIN3A	chr6:44266123-44266323	H1-hESC	embryonic stem cell:	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	chr6:44215194..44217832-chr6:44265456..44268236,2	K562	blood:
9	chr6:44257360..44259617-chr6:44265641..44268497,2	MCF-7	breast:

No data

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

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

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	0.91[AFR][1000 genomes];1.00[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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324136	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324141	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324143	1.00[EUR][1000 genomes]
rs325005	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325006	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325007	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325008	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325009	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325010	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs325011	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35260018	0.96[EUR][1000 genomes]
rs4308546	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4499913	0.85[AFR][1000 genomes]
rs4714775	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4714778	1.00[ASN][1000 genomes]
rs482336	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484757	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs505617	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs511088	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs534416	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568902	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61462867	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650075	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927345	1.00[ASN][1000 genomes]
rs7740535	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865027	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9357439	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs9369483	1.00[ASN][1000 genomes]
rs9472241	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9472243	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472244	0.94[AMR][1000 genomes];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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44264800-44266400	Enhancers	Lung	lung
2	chr6:44265000-44268000	Weak transcription	Dnd41	blood
3	chr6:44265000-44269800	Weak transcription	Hela-S3	cervix
4	chr6:44265400-44266400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr6:44265400-44268000	Weak transcription	Aorta	Aorta
6	chr6:44265600-44266400	Enhancers	Gastric	stomach
7	chr6:44265600-44268000	Weak transcription	HepG2	liver
8	chr6:44265600-44268200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:44265600-44279600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:44265800-44266400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:44265800-44266600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:44265800-44268000	Weak transcription	HSMM	muscle
13	chr6:44265800-44269400	Weak transcription	K562	blood
14	chr6:44265800-44270000	Weak transcription	HMEC	breast
15	chr6:44266000-44266400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:44266000-44266400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr6:44266000-44266400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:44266000-44266400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:44266000-44266400	Enhancers	Brain Cingulate Gyrus	brain
20	chr6:44266000-44266400	Bivalent Enhancer	Brain Germinal Matrix	brain
21	chr6:44266000-44266400	Enhancers	Duodenum Mucosa	Duodenum
22	chr6:44266000-44266400	Enhancers	Fetal Brain Female	brain
23	chr6:44266000-44266400	Enhancers	Fetal Intestine Large	intestine
24	chr6:44266000-44266400	Enhancers	Fetal Intestine Small	intestine
25	chr6:44266000-44266400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr6:44266000-44266800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:44266000-44266800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:44266000-44267800	Weak transcription	Brain Substantia Nigra	brain
29	chr6:44266000-44268000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:44266000-44268000	Weak transcription	Primary T cells from cord blood	blood
31	chr6:44266000-44268000	Weak transcription	Brain Angular Gyrus	brain
32	chr6:44266000-44268000	Weak transcription	Brain Anterior Caudate	brain
33	chr6:44266000-44268000	Weak transcription	Left Ventricle	heart
34	chr6:44266000-44268000	Weak transcription	Ovary	ovary
35	chr6:44266000-44268000	Weak transcription	Right Ventricle	heart
36	chr6:44266000-44268000	Weak transcription	Spleen	Spleen
37	chr6:44266000-44268000	Weak transcription	A549	lung
38	chr6:44266000-44268200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:44266000-44268200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:44266000-44268200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:44266000-44268200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:44266000-44269800	Weak transcription	GM12878-XiMat	blood
43	chr6:44266000-44271600	Weak transcription	NHDF-Ad	bronchial
44	chr6:44266000-44272400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr6:44266000-44276600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:44266000-44277000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr6:44266000-44280000	Weak transcription	Small Intestine	intestine
48	chr6:44266200-44266400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:44266200-44266400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:44266200-44266400	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links