Variant report

Variant	rs691133
Chromosome Location	chr19:39612932-39612933
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:213)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:213 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:39612661-39613034	A549	lung:	n/a	n/a
2	CTCF	chr19:39612760-39612975	GM20000	blood:	n/a	n/a
3	CTCF	chr19:39612800-39612950	HPF	lung:	n/a	n/a
4	CTCF	chr19:39612800-39612950	GM12873	blood:	n/a	n/a
5	CTCF	chr19:39612671-39613042	ECC-1	luminal epithelium:	n/a	n/a
6	CTCF	chr19:39612551-39613057	K562	blood:	n/a	n/a
7	CTCF	chr19:39612720-39613007	MCF-7	breast:	n/a	n/a
8	IRF4	chr19:39612665-39613055	GM12878	blood:	n/a	n/a
9	CTCF	chr19:39612727-39613005	A549	lung:	n/a	n/a
10	CTCF	chr19:39612737-39612992	Pancreas_OC	pancreas:	n/a	n/a
11	CTCF	chr19:39612717-39613011	MCF-7	breast:	n/a	n/a
12	RAD21	chr19:39612729-39613213	ECC-1	luminal epithelium:	n/a	n/a
13	RAD21	chr19:39612727-39613146	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr19:39612676-39613250	A549	lung:	n/a	n/a
15	CTCF	chr19:39612800-39612950	HBMEC	blood vessel:	n/a	n/a
16	RAD21	chr19:39612692-39613082	K562	blood:	n/a	n/a
17	STAT1	chr19:39612804-39613032	GM12878	blood:	n/a	n/a
18	MYC	chr19:39612723-39612985	MCF10A-Er-Src	breast:	n/a	n/a
19	CTCF	chr19:39612800-39612950	GM12875	blood:	n/a	n/a
20	CTCF	chr19:39612800-39612950	HepG2	liver:	n/a	n/a
21	CTCF	chr19:39612666-39613091	A549	lung:	n/a	n/a
22	MAX	chr19:39612688-39613060	MCF-7	breast:	n/a	n/a
23	CTCF	chr19:39612800-39612950	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr19:39612662-39613091	IMR90	lung:	n/a	n/a
25	CTCF	chr19:39612728-39612998	MCF-7	breast:	n/a	n/a
26	FOSL2	chr19:39612563-39613247	A549	lung:	n/a	n/a
27	CTCF	chr19:39612800-39612950	AG09309	skin:	n/a	n/a
28	YY1	chr19:39612689-39613015	HCT-116	colon:	n/a	n/a
29	CTCF	chr19:39612800-39612950	BE2_C	brain:	n/a	n/a
30	CTCF	chr19:39612719-39613012	GM19240	blood:	n/a	n/a
31	SIN3AK20	chr19:39612667-39613118	A549	lung:	n/a	n/a
32	CTCF	chr19:39612742-39612998	LNCaP	prostate:	n/a	n/a
33	CTCF	chr19:39612705-39613076	H1-hESC	embryonic stem cell:	n/a	n/a
34	SMC3	chr19:39612667-39613106	GM12878	blood:	n/a	n/a
35	RAD21	chr19:39612687-39613128	GM12878	blood:	n/a	n/a
36	RAD21	chr19:39612539-39613306	HCT-116	colon:	n/a	n/a
37	CTCF	chr19:39612734-39612996	MCF-7	breast:	n/a	n/a
38	ELK1	chr19:39612843-39613032	GM12878	blood:	n/a	n/a
39	CTCF	chr19:39612820-39612970	HRE	kidney:	n/a	n/a
40	CTCF	chr19:39612800-39612950	HMF	breast:	n/a	n/a
41	CTCF	chr19:39612800-39612950	HCPEpiC	choroid plexus:	n/a	n/a
42	SIX5	chr19:39612586-39613870	A549	lung:	n/a	n/a
43	CTCF	chr19:39612820-39612970	HVMF	connective:	n/a	n/a
44	MAX	chr19:39612512-39613264	A549	lung:	n/a	n/a
45	CTCF	chr19:39612800-39612950	NHEK	skin:	n/a	n/a
46	MAFK	chr19:39612770-39613036	K562	blood:	n/a	n/a
47	CTCF	chr19:39612691-39613024	HepG2	liver:	n/a	n/a
48	CTCF	chr19:39612733-39612985	H1-hESC	embryonic stem cell:	n/a	n/a
49	GTF2F1	chr19:39612797-39612995	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr19:39612683-39613197	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:39610539..39613482-chr19:39683239..39685361,3	MCF-7	breast:
2	chr19:39612391..39613482-chr19:39818450..39819402,8	K562	blood:
3	chr19:39612445..39613348-chr19:39817618..39818418,2	K562	blood:
4	chr19:39612412..39613536-chr19:39677602..39678408,4	MCF-7	breast:
5	chr19:39612566..39613389-chr19:39702383..39703279,2	MCF-7	breast:
6	chr19:39612804..39613333-chr19:39813351..39814182,2	MCF-7	breast:
7	chr19:39612929..39614547-chr19:39644614..39646235,2	K562	blood:
8	chr19:39612790..39613344-chr19:39677633..39678518,3	MCF-7	breast:
9	chr19:39611154..39613169-chr19:39902607..39904497,2	MCF-7	breast:

No data

Variant related genes	Relation type
PAK4	TF binding region
ENSG00000090924	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2247813	1.00[AMR][1000 genomes]
rs691998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs692059	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1067028	chr19:39567228-39622846	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1060469	chr19:39567228-39624790	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39603200-39614600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:39611000-39616000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:39611600-39613800	Enhancers	A549	lung
4	chr19:39611800-39613000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr19:39612600-39613000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:39612600-39613200	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:39612600-39613200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:39612600-39613200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:39612600-39613200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr19:39612600-39613200	Enhancers	Placenta	Placenta
11	chr19:39612600-39614000	Enhancers	K562	blood
12	chr19:39612800-39613000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr19:39612800-39613000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:39612800-39613000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:39612800-39613000	Enhancers	Brain Anterior Caudate	brain
16	chr19:39612800-39613000	Enhancers	Dnd41	blood
17	chr19:39612800-39613200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr19:39612800-39613200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr19:39612800-39613200	Flanking Active TSS	Hela-S3	cervix
20	chr19:39612800-39615800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:39612800-39616000	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links