Variant report

Variant	rs11665880
Chromosome Location	chr19:40780749-40780750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr19:40780639-40781390	K562	blood:	n/a	n/a
2	POLR2A	chr19:40780467-40781332	K562	blood:	n/a	n/a
3	CHD2	chr19:40780645-40780923	K562	blood:	n/a	n/a
4	MTA3	chr19:40780376-40781541	GM12878	blood:	n/a	n/a
5	PAX5	chr19:40780476-40780915	GM12878	blood:	n/a	n/a
6	GABPA	chr19:40780452-40780815	K562	blood:	n/a	n/a
7	CHD2	chr19:40780572-40781350	GM12878	blood:	n/a	n/a
8	MYC	chr19:40780623-40780825	K562	blood:	n/a	n/a
9	MAZ	chr19:40780448-40781275	GM12878	blood:	n/a	n/a
10	BHLHE40	chr19:40780462-40780858	GM12878	blood:	n/a	n/a
11	ZBTB7A	chr19:40780509-40780867	K562	blood:	n/a	n/a
12	EBF1	chr19:40780597-40781402	GM12878	blood:	n/a	chr19:40781096-40781107
13	MAX	chr19:40780434-40781571	K562	blood:	n/a	n/a
14	MAZ	chr19:40780427-40781202	K562	blood:	n/a	n/a
15	MXI1	chr19:40780324-40781403	GM12878	blood:	n/a	n/a
16	MAX	chr19:40780506-40780817	GM12878	blood:	n/a	n/a
17	REST	chr19:40780259-40781533	PANC-1	pancreas:	n/a	n/a
18	ELF1	chr19:40780348-40780780	K562	blood:	n/a	chr19:40780569-40780582
19	RUNX3	chr19:40780624-40780923	GM12878	blood:	n/a	n/a
20	ELF1	chr19:40780374-40780980	GM12878	blood:	n/a	chr19:40780569-40780582
21	ELF1	chr19:40780426-40780905	GM12878	blood:	n/a	chr19:40780569-40780582
22	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr19:40780391-40781295	K562	blood:	n/a	n/a
24	POLR2A	chr19:40779523-40781545	GM12878	blood:	n/a	n/a
25	CTCF	chr19:40780640-40780790	GM12870	blood:	n/a	n/a
26	MAX	chr19:40780701-40781475	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40778844..40781132-chr19:41035904..41037926,2	K562	blood:
2	chr19:40780031..40782205-chr19:40949064..40951116,2	K562	blood:
3	chr19:40774152..40777118-chr19:40779107..40782198,3	MCF-7	breast:
4	chr19:40776409..40778614-chr19:40779445..40781045,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC118344.1-1	chr19:40780067-40781386	ENSG00000205041.1

No data

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000160460	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000268366	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11666690	0.85[EUR][1000 genomes]
rs11667443	0.85[EUR][1000 genomes]
rs11668520	0.85[EUR][1000 genomes]
rs11669006	0.85[EUR][1000 genomes]
rs11669332	0.85[EUR][1000 genomes]
rs11670912	0.80[EUR][1000 genomes]
rs11671439	0.83[EUR][1000 genomes]
rs2356230	0.81[EUR][1000 genomes]
rs3730053	1.00[AFR][1000 genomes]
rs3730256	0.94[ASN][1000 genomes]
rs59106111	0.83[EUR][1000 genomes]
rs7252506	0.81[EUR][1000 genomes]
rs73933232	0.81[EUR][1000 genomes]
rs73933236	0.85[EUR][1000 genomes]
rs73933237	0.85[EUR][1000 genomes]
rs73933238	0.83[EUR][1000 genomes]
rs73933240	0.85[EUR][1000 genomes]
rs73933241	0.85[EUR][1000 genomes]
rs873143	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1064502	chr19:40758049-40781360	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1063993	chr19:40763787-40781360	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1059884	chr19:40763839-40781360	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1057052	chr19:40776128-40789766	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40762800-40780800	Weak transcription	Small Intestine	intestine
2	chr19:40766200-40788600	Weak transcription	HSMMtube	muscle
3	chr19:40769600-40783600	Weak transcription	Fetal Kidney	kidney
4	chr19:40770000-40789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:40770000-40789600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:40770200-40789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:40770200-40790200	Weak transcription	Aorta	Aorta
8	chr19:40770400-40784000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:40771000-40780800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr19:40771000-40783600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr19:40771400-40789400	Weak transcription	HUVEC	blood vessel
12	chr19:40771600-40786000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:40773800-40780800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:40776000-40787400	Weak transcription	A549	lung
15	chr19:40776400-40785000	Weak transcription	NHLF	lung
16	chr19:40776600-40783200	Weak transcription	Fetal Intestine Large	intestine
17	chr19:40776600-40783800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:40776600-40785800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:40778000-40786400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:40778400-40783600	Weak transcription	NHEK	skin
21	chr19:40778600-40784000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:40778600-40784400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr19:40778800-40780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:40778800-40784200	Weak transcription	HSMM	muscle
25	chr19:40778800-40784200	Weak transcription	Osteobl	bone
26	chr19:40778800-40785200	Weak transcription	HMEC	breast
27	chr19:40778800-40786200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:40778800-40787600	Weak transcription	Hela-S3	cervix
29	chr19:40779000-40781600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr19:40779000-40786800	Weak transcription	Dnd41	blood
31	chr19:40779200-40781400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr19:40779200-40781400	Enhancers	Fetal Muscle Trunk	muscle
33	chr19:40779200-40781600	Flanking Active TSS	K562	blood
34	chr19:40779200-40782200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr19:40779400-40781200	Enhancers	Fetal Muscle Leg	muscle
36	chr19:40779400-40781400	Enhancers	Brain Cingulate Gyrus	brain
37	chr19:40779400-40781400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr19:40779400-40782600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:40779400-40789600	Enhancers	Left Ventricle	heart
40	chr19:40779600-40781000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:40779600-40781000	Enhancers	Fetal Lung	lung
42	chr19:40779600-40781200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:40779600-40781200	Enhancers	Fetal Brain Male	brain
44	chr19:40779600-40781400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:40779600-40781400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:40779600-40781400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr19:40779600-40781400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr19:40779600-40781400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:40779600-40781400	Enhancers	Brain Hippocampus Middle	brain
50	chr19:40779600-40781400	Enhancers	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links