Variant report

Variant	rs1059640
Chromosome Location	chr11:17096715-17096716
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:17093708-17100104	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:17096198-17097791	U87	brain:	n/a	n/a
3	POLR2A	chr11:17093738-17102258	K562	blood:	n/a	n/a
4	POLR2A	chr11:17094588-17097949	K562	blood:	n/a	n/a
5	POLR2A	chr11:17096034-17096742	K562	blood:	n/a	n/a
6	POLR2A	chr11:17096192-17097837	U87	brain:	n/a	n/a
7	POLR2A	chr11:17094321-17099956	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:17094667-17097558	HepG2	liver:	n/a	n/a
9	GATA3	chr11:17096261-17096775	SH-SY5Y	brain:	n/a	n/a
10	POLR2A	chr11:17093851-17100645	GM12878	blood:	n/a	n/a
11	SIX5	chr11:17096550-17096821	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:17094515-17100328	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:17092359-17097808	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:17094568-17100192	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:17094537-17100702	K562	blood:	n/a	n/a
16	POLR2A	chr11:17092732-17100728	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:17094690-17100105	IMR90	lung:	n/a	n/a
18	POLR2A	chr11:17096682-17097047	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr11:17095916-17096749	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:17094536-17100574	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:17094981-17096744	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:17094601-17100190	K562	blood:	n/a	n/a
23	SP1	chr11:17096408-17096850	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:17093711-17096861	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr11:17094401-17100379	GM12892	blood:	n/a	n/a
26	POLR2A	chr11:17093744-17097704	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr11:17096484-17096793	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr11:17096507-17096766	T-47D	breast:	n/a	n/a
29	POLR2A	chr11:17096094-17100723	K562	blood:	n/a	n/a
30	POLR2A	chr11:17096456-17096786	GM12891	blood:	n/a	n/a
31	POLR2A	chr11:17094669-17096821	HepG2	liver:	n/a	n/a
32	GATA3	chr11:17096550-17096801	T-47D	breast:	n/a	n/a
33	POLR2A	chr11:17094604-17097745	A549	lung:	n/a	n/a
34	POLR2A	chr11:17096026-17100607	GM18505	blood:	n/a	n/a
35	REST	chr11:17096585-17096747	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:17094605-17100236	GM12878	blood:	n/a	n/a
37	EP300	chr11:17096467-17096790	T-47D	breast:	n/a	n/a
38	REST	chr11:17096624-17096745	PANC-1	pancreas:	n/a	n/a
39	SIN3AK20	chr11:17096563-17096820	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr11:17096310-17096976	HCT-116	colon:	n/a	n/a
41	POLR2A	chr11:17092645-17100693	SK-N-MC	brain:	n/a	n/a
42	POLR2A	chr11:17093569-17096839	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:17094856..17097184-chr11:17228610..17231252,2	K562	blood:
2	chr11:17094939..17099575-chr11:17373026..17376765,6	K562	blood:
3	chr11:17096429..17100576-chr11:17227768..17230724,6	K562	blood:
4	chr11:16847181..16850081-chr11:17095305..17097165,2	K562	blood:

No data

Variant related genes	Relation type
SNORD14A	TF binding region
ENSG00000011405	Chromatin interaction
ENSG00000166689	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12281206	0.89[AMR][1000 genomes]
rs12294528	0.89[AMR][1000 genomes]
rs55853906	0.89[AMR][1000 genomes]
rs57681321	1.00[AMR][1000 genomes]
rs59763013	0.89[AMR][1000 genomes]
rs6486356	0.89[AMR][1000 genomes]
rs7125829	0.85[AFR][1000 genomes]
rs7126283	1.00[AMR][1000 genomes]
rs7924885	0.83[AFR][1000 genomes]
rs7928860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932756	0.90[AFR][1000 genomes]
rs7935357	0.83[AFR][1000 genomes]
rs7939949	1.00[AMR][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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17085400-17097200	Weak transcription	Right Ventricle	heart
2	chr11:17085400-17098200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:17087000-17098000	Weak transcription	Esophagus	oesophagus
4	chr11:17089400-17097600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:17092200-17098200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:17092200-17098200	Weak transcription	Aorta	Aorta
7	chr11:17092800-17097600	Weak transcription	Colonic Mucosa	Colon
8	chr11:17093400-17097200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:17093600-17097200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:17093600-17097200	Strong transcription	Fetal Stomach	stomach
11	chr11:17093800-17097200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:17093800-17097600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:17094000-17097400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr11:17094400-17097200	Strong transcription	Fetal Intestine Large	intestine
15	chr11:17094600-17096800	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:17094600-17097000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:17094600-17097000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:17094600-17097200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:17094600-17097200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:17094600-17097200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr11:17094600-17097200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:17094600-17097200	Strong transcription	HSMM	muscle
23	chr11:17094600-17097200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:17094600-17097400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:17094600-17097600	Strong transcription	Fetal Thymus	thymus
26	chr11:17094800-17097000	Strong transcription	Ovary	ovary
27	chr11:17094800-17097200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr11:17094800-17097200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:17094800-17097200	Strong transcription	Spleen	Spleen
30	chr11:17094800-17097600	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:17094800-17097600	Strong transcription	Left Ventricle	heart
32	chr11:17095000-17096800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:17095000-17096800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:17095000-17097200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:17095000-17097200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr11:17095000-17097600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:17095000-17097600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr11:17095000-17098200	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr11:17095200-17097000	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:17095200-17097200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:17095200-17097200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:17095200-17097200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:17095200-17097200	Strong transcription	Fetal Brain Male	brain
44	chr11:17095200-17097200	Strong transcription	Fetal Lung	lung
45	chr11:17095200-17097200	Weak transcription	Lung	lung
46	chr11:17095200-17097200	Strong transcription	HSMMtube	muscle
47	chr11:17095200-17097200	Strong transcription	NHLF	lung
48	chr11:17095200-17097400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr11:17095200-17098000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:17095200-17098000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland

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