Variant report

Variant	rs17132665
Chromosome Location	chr7:2802173-2802174
allele	C/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	chr7:2802153-2802805	U87	brain:	n/a	n/a
2	POLR2A	chr7:2802023-2803461	PFSK-1	brain:	n/a	n/a
3	TAF1	chr7:2802132-2802628	PFSK-1	brain:	n/a	n/a
4	MAZ	chr7:2801882-2803312	IMR90	lung:	n/a	n/a
5	MXI1	chr7:2801857-2803591	IMR90	lung:	n/a	n/a
6	POLR2A	chr7:2802147-2802888	U87	brain:	n/a	n/a
7	POLR2A	chr7:2802103-2803400	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:2801788..2804432-chr7:2882018..2884117,3	K562	blood:

Variant related genes	Relation type
GNA12	TF binding region
AMZ1	TF binding region
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11761804	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11764225	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11765492	0.89[EUR][1000 genomes]
rs11769532	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11772508	0.89[EUR][1000 genomes]
rs11971014	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12540539	0.81[AMR][1000 genomes]
rs17132594	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17132624	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17241904	0.81[AMR][1000 genomes]
rs17300022	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55726557	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55767077	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55776032	0.86[EUR][1000 genomes]
rs55832916	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56007918	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56208415	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56356906	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56399783	0.86[EUR][1000 genomes]
rs6461600	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6964740	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6967664	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73033403	0.84[AMR][1000 genomes]
rs73033407	0.82[AMR][1000 genomes]
rs73033408	0.83[AMR][1000 genomes]
rs73047343	0.82[EUR][1000 genomes]
rs73047355	0.80[EUR][1000 genomes]
rs73047368	0.86[EUR][1000 genomes]
rs73047387	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73047393	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73049305	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73049327	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049331	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049341	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049362	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73049380	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73051415	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73051469	0.84[AMR][1000 genomes]
rs757788	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7803944	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7804264	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7811164	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9770108	0.90[AMR][1000 genomes];0.82[EUR][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	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1032282	chr7:2789555-2820774	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
3	chr7:2791200-2803400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:2796400-2803200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:2796400-2804000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr7:2796800-2803600	Weak transcription	Primary B cells from cord blood	blood
7	chr7:2796800-2804400	Enhancers	Fetal Muscle Leg	muscle
8	chr7:2797000-2803200	Enhancers	Right Ventricle	heart
9	chr7:2797000-2803800	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:2797000-2805400	Enhancers	Placenta	Placenta
11	chr7:2797600-2831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:2798000-2803600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr7:2798000-2827400	Weak transcription	Thymus	Thymus
14	chr7:2798200-2803200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:2798400-2802200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:2798400-2802200	Enhancers	Osteobl	bone
17	chr7:2798400-2803000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:2799000-2803800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:2799200-2802200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:2799200-2802400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr7:2799200-2802400	Enhancers	Right Atrium	heart
22	chr7:2799200-2802600	Enhancers	Left Ventricle	heart
23	chr7:2799200-2804400	Enhancers	Ovary	ovary
24	chr7:2799200-2804600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:2799200-2817000	Weak transcription	Dnd41	blood
26	chr7:2799200-2827200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:2799600-2802400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:2799600-2803800	Genic enhancers	Fetal Stomach	stomach
29	chr7:2799600-2807600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:2799600-2825600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:2800200-2802200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:2800200-2802400	Enhancers	Brain Anterior Caudate	brain
33	chr7:2800200-2803600	Enhancers	Fetal Heart	heart
34	chr7:2800200-2806400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:2800200-2815800	Weak transcription	Liver	Liver
36	chr7:2800400-2802200	Weak transcription	HMEC	breast
37	chr7:2800400-2804400	Enhancers	NHDF-Ad	bronchial
38	chr7:2800400-2810200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:2800600-2802200	Weak transcription	NH-A	brain
40	chr7:2800600-2802400	Enhancers	Brain Hippocampus Middle	brain
41	chr7:2800600-2802800	Enhancers	Brain Substantia Nigra	brain
42	chr7:2800600-2802800	Weak transcription	Fetal Brain Female	brain
43	chr7:2800600-2803800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:2800600-2804600	Enhancers	Fetal Muscle Trunk	muscle
45	chr7:2800800-2802800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:2800800-2802800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:2800800-2802800	Enhancers	Colon Smooth Muscle	Colon
48	chr7:2800800-2803000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr7:2800800-2803800	Enhancers	Brain Angular Gyrus	brain
50	chr7:2800800-2805600	Weak transcription	GM12878-XiMat	blood

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