Variant report

Variant	rs58115104
Chromosome Location	chr11:10476919-10476920
allele	G/T
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	POLR2A	chr11:10476180-10478518	IMR90	lung:	n/a	n/a
2	HCFC1	chr11:10476488-10476969	K562	blood:	n/a	n/a
3	MTA3	chr11:10476385-10476997	GM12878	blood:	n/a	n/a
4	RCOR1	chr11:10476407-10478075	GM12878	blood:	n/a	n/a
5	YY1	chr11:10476458-10477020	K562	blood:	n/a	chr11:10476728-10476736
6	RELA	chr11:10476067-10478371	GM12891	blood:	n/a	n/a
7	HMGN3	chr11:10476443-10477125	K562	blood:	n/a	n/a
8	BHLHE40	chr11:10476353-10478392	K562	blood:	n/a	n/a
9	RELA	chr11:10476246-10478481	GM19099	blood:	n/a	n/a
10	POLR2A	chr11:10476781-10476923	GM12878	blood:	n/a	n/a
11	NFIC	chr11:10476426-10476980	GM12878	blood:	n/a	n/a
12	E2F6	chr11:10476529-10478454	K562	blood:	n/a	chr11:10478174-10478183
13	YY1	chr11:10476481-10476963	GM12892	blood:	n/a	chr11:10476728-10476736
14	TCF12	chr11:10476150-10477343	A549	lung:	n/a	n/a
15	MAX	chr11:10476252-10478118	A549	lung:	n/a	chr11:10476971-10476981 chr11:10476970-10476979
16	RELA	chr11:10476473-10476969	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:10476302-10478356	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:10476317-10476988	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:10476452-10477060	GM12878	blood:	n/a	n/a
20	JUN	chr11:10475959-10478519	K562	blood:	n/a	chr11:10476625-10476633 chr11:10476624-10476634 chr11:10477854-10477864 chr11:10476624-10476634 chr11:10478179-10478190 chr11:10477748-10477762
21	SP1	chr11:10476411-10476962	GM12878	blood:	n/a	n/a
22	GATA1	chr11:10476276-10478557	K562	blood:	n/a	chr11:10477539-10477548 chr11:10477085-10477101 chr11:10478151-10478168
23	ATF2	chr11:10476297-10476977	GM12878	blood:	n/a	n/a
24	MAX	chr11:10476475-10476983	A549	lung:	n/a	chr11:10476971-10476981 chr11:10476970-10476979
25	E2F6	chr11:10476861-10477060	K562	blood:	n/a	n/a
26	NFIC	chr11:10476218-10478049	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:10476208-10478464	GM12892	blood:	n/a	n/a
28	POLR2A	chr11:10476431-10478456	GM12892	blood:	n/a	n/a
29	TBP	chr11:10476535-10476951	GM12878	blood:	n/a	n/a
30	TAF1	chr11:10476653-10476951	GM12878	blood:	n/a	n/a
31	USF1	chr11:10476734-10477122	K562	blood:	n/a	n/a
32	PAX5	chr11:10476390-10476999	GM12878	blood:	n/a	n/a
33	RUNX3	chr11:10476426-10476985	GM12878	blood:	n/a	n/a
34	POU2F2	chr11:10476482-10476946	GM12878	blood:	n/a	n/a
35	EBF1	chr11:10476643-10476979	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:10475934-10478530	K562	blood:	n/a	n/a
37	POLR2A	chr11:10476246-10478376	K562	blood:	n/a	n/a
38	EP300	chr11:10476528-10476925	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:10476579-10476971	GM12878	blood:	n/a	n/a
40	REST	chr11:10476904-10477786	K562	blood:	n/a	n/a
41	RELA	chr11:10476045-10477035	GM10847	blood:	n/a	n/a
42	MYC	chr11:10476352-10476933	MCF10A-Er-Src	breast:	n/a	n/a
43	TBP	chr11:10476489-10476937	K562	blood:	n/a	n/a
44	POLR2A	chr11:10476159-10477179	U87	brain:	n/a	n/a
45	SIN3AK20	chr11:10476747-10477094	K562	blood:	n/a	n/a
46	EBF1	chr11:10476452-10476999	GM12878	blood:	n/a	n/a
47	NFATC1	chr11:10476335-10476953	GM12878	blood:	n/a	n/a
48	MAZ	chr11:10476419-10477815	K562	blood:	n/a	chr11:10476971-10476981 chr11:10476970-10476979
49	RELA	chr11:10476445-10478359	GM15510	blood:	n/a	n/a
50	POLR2A	chr11:10476140-10477855	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:10427808..10432250-chr11:10475440..10478017,5	K562	blood:
2	chr11:10470733..10474944-chr11:10476648..10480616,5	MCF-7	breast:
3	chr11:10469398..10472547-chr11:10473380..10477623,4	K562	blood:
4	chr11:10476262..10479144-chr11:10482528..10484355,2	K562	blood:
5	chr11:10476884..10479039-chr11:10561132..10563728,3	K562	blood:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	Chromatin interaction
ENSG00000177112	Chromatin interaction
ENSG00000110315	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs5029459	0.80[AFR][1000 genomes]
rs73407783	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs922359	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10473000-10478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:10473200-10477000	Weak transcription	Colonic Mucosa	Colon
3	chr11:10473200-10477200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:10473200-10477200	Weak transcription	Liver	Liver
5	chr11:10473200-10478000	Enhancers	HMEC	breast
6	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
7	chr11:10473600-10477000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:10473600-10477200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:10473600-10477200	Weak transcription	Right Atrium	heart
10	chr11:10473600-10477400	Weak transcription	Right Ventricle	heart
11	chr11:10473600-10477800	Weak transcription	Lung	lung
12	chr11:10473600-10477800	Weak transcription	Pancreas	Pancrea
13	chr11:10474200-10482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:10474400-10477600	Enhancers	Brain Substantia Nigra	brain
15	chr11:10475400-10477200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:10475400-10477600	Enhancers	Fetal Muscle Leg	muscle
17	chr11:10475600-10477000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:10475600-10477000	Enhancers	Fetal Kidney	kidney
19	chr11:10475600-10477200	Enhancers	Primary B cells from peripheral blood	blood
20	chr11:10475600-10477200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:10475600-10477200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:10475600-10477200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr11:10475600-10477200	Enhancers	Brain Cingulate Gyrus	brain
24	chr11:10475600-10477200	Enhancers	Fetal Thymus	thymus
25	chr11:10475600-10478600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:10475800-10477000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr11:10475800-10477000	Enhancers	NHDF-Ad	bronchial
28	chr11:10475800-10477200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:10475800-10477200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr11:10476000-10477000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr11:10476000-10477000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:10476000-10477000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr11:10476000-10477200	Enhancers	Primary T cells from cord blood	blood
34	chr11:10476000-10477200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr11:10476000-10477200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr11:10476000-10477400	Enhancers	Thymus	Thymus
37	chr11:10476000-10477600	Enhancers	Fetal Intestine Small	intestine
38	chr11:10476000-10477600	Bivalent Enhancer	Fetal Stomach	stomach
39	chr11:10476200-10477200	Flanking Active TSS	Hela-S3	cervix
40	chr11:10476200-10477800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:10476200-10478000	Flanking Active TSS	NHEK	skin
42	chr11:10476200-10478400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:10476200-10478400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:10476200-10478400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:10476200-10478800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr11:10476400-10477000	Enhancers	Colon Smooth Muscle	Colon
47	chr11:10476400-10477000	Enhancers	Fetal Muscle Trunk	muscle
48	chr11:10476400-10477200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr11:10476400-10477200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr11:10476400-10477200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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